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https://stanfordmedicine25.stanford.edu/the25/gait.html

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I'm now going to demonstrate a couple of gaits. It would be a great shame for a patient to come to us with an abnormal gait and for us to send the patient for testing or consultation when the diagnosis might be fairly evident in the gait. The most common gauge you will see is the hemiplegic gait and this is one that you see in hemiplegia where the arm is typically in this posture and the leg on the affected side is typically somewhat stiff.

They will then have a gait that looks something like this and the characteristic of the gait is the circumduction of the foot. The fact that the foot is making a circle like that is what makes this gait so characteristic. If the condition is mild the hand may not be flexed up like that and the only manifestation might just be a little circumduction and the hand may not be swinging normally the way the other hand swing. That is called the hemiplegic gait. It's important to understand why they do what they do when you cut the pyramidal tract. On the left side you have abnormalities of tone that manifests on the right side. So you develop flexion hypertonia in the upper limb and extensor hypertonia in the lower limb and that accounts for the leg being like that and the hand being like this. In addition, they develop much more distal weakness than proximity weakness. Their shoulder is strong and the fingers are very weak.

The tie is strong but the foot is weak and so they have foot drop and so the circumduction comes about because a) they have extensor hypertonia. The length of the leg is stiff. Otherwise. they could just step like this you know they could go like this. And b) because they have foot drop because their weakness distally. They can't lift up the leg and step like that so they wind up circumducting so this is the most common gait we will see around here probably. It's called the hemiplegic gait.

Another case that we would commonly identify is the gait of Parkinson's disease. It's a posture that's characterized by universal flexion. Every joint is flexed and the patient typically will take very small steps. This is called a festination gait. The French call it the marche. A petit power walk of little steps and there might also be an associated tremor with the gait. The patient may have a myriad other abnormalities related to the Parkinson's that we are not going to cover in this session.

Another gait that's very helpful to recognize and it may be one that you're all familiar with from watching police videos and hopefully not from personal experience is the cerebellar gait. The cerebellar gait is characterized by a broad stand and by a wide staggering quality to it. People will tend to fall towards the side of their illness so if the illness is in the cerebellar hemisphere on the left they might fall in that direction. When asked to stand still, their trunk may sway like this and that is called titubation and obviously they would have problems with all the other cerebellar tests.

One caveat: many people think of the Romberg test as being a test of cerebellar disease. Now the Romberg test has nothing to do with the cerebellum. The cerebellum patient is already swinging and it gets a lot worse when you have them proprioception. When you and I are standing like this with our eyes open we are getting signals from our joints to tell us where we are in space. If however you have a problem with proprioception because of your peripheral nerves or posterior columns, then you're relying on your eyes to tell you where you are in space. Therefore, the moment you ask the patient to stand still and close their eyes the patient begins to sway and that is a positive Romberg test it has very little to do with the cerebellum.

Talking about proprioception leads me to the other gait related to proprioception. Once again if you have trouble with your proprioception and cannot feel when your foot has arrived on the floor you are relying on a lot of visual cues and especially in the dark. You might develop what's called a stomping or stamping gait where you tend to walk like this needing to slam your foot down to get the vibration in your trunk to let you know that your foot has landed. So this gait may be much more prominent in the dark and not as evident in the daytime because they can see where they're going.

I get that we should mention in the context of the hemiplegic gait. This is the gait that is commonly seen in cerebral palsy. It's a diplegia gait, if you will, with hemiplegia on both sides. It's a gait that I'm sure you've seen often in children and in adults affected by this from childhood. Typically the patients have extensor spasm and almost seem to be walking on tiptoe and although they have some circumduction they have a lot of adductor spasm that keeps their feet close together so they tend to be walking on tiptoe the arm is flexed like this. The adduction is a prominent feature in fact in some parts of the world where children do not get adductor releases you might actually see a scissors gait where the leg swings all the way over to the other side and again. That is another manifestation of the diplegia gait.

I want to talk about a gait that happens in people with myopathy and this is a gait where the patient develops a waddle. In order to understand this gait you have to do a couple of things with me. If you don't mind put your hands on your hip and appreciate that when you take a step to step forward the hip on the side where you are stepping forward that hip actually moves up. It moves up and it's a function of having very strong pelvic girdle muscles that allow you to do that if you have a myopathy when you lift your leg up to take a step because you can't hold your pelvis up and stabilize it. There's a tendency for the hip to fall on that side and for you to fall over and to compensate for that you lean your trunk this way.

So you develop a waddling kind of gait compensating for the fact that your pelvis and your pelvic muscles aren't strong. You're getting a waddling kind of gait leaning away from the side where you have the weakness. You know in a sense it's a manifestation also of the Trendelenburg sign. The Trendelenburg sign says that when you lift the hip on the affected side the pelvis sags down and it's a suggestion that you have weakness in the pelvic stabilizing muscles.

Another gait that I will discuss is the neuropathic gait. If you have a peripheral neuropathy and you have foot drop, then typically you have to have a high step in gait. Otherwise you will trip on your foot and fall forward. So patients in neuropathy especially if it's bilateral will have a gait like this which is nicely also called the equine gait or the stepping or step edge gait. The reason they do this is they can't step forward without tripping on their foot because they can't really dorsiflex their foot because of weakness. The foot is weak and so to overcome that weakness they have to lift it up like so.

The choreiform gait does not in my mind strictly constitute a gait. These patients are already exhibiting driving movements and voluntary movements when seated and when they walk they can have the most bizarre sorts of gaits. I don't think it's fair to call it a gait because really the involuntary movement is manifest and pretty much everything they do.

I would offer as a caveat that all our hospitals have long corridors, great opportunities to watch patients walking towards you and away from you and I encourage you to make a habit of studying gaits as people come and go and realize what a miracle it is for people to have a normal gait and how easily it is rendered abnormal by disease.

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Abnormal gait (walking disorder) types include: hemiplegic, diplegic, neuropathic, myopathic, Parkinsonian, choreiform, ataxic, and sensory.

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https://teachmeanatomy.info/lower-limb/misc/walking-and-gaits/

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The typical walk consists of a repeated gait cycle. The cycle itself contains two phases - a stance phase and a swing phase:

Stance phase: Accounts for 60% of the gait cycle. It can be divided into the heel strike, support, and toe-off phases.

Swing phase: Accounts for 40% of the cycle. It can be divided into the leg lift and swing phases.

We will now work through each individual stage in turn, discussing them in more detail.

Heel-Strike

In the heel-strike stage, the foot hits the ground heel first. Three muscles/muscle sets are involved, each acting at a different joint:

Gluteus maximus - acts on the hip to decelerate the forward motion of the lower limb.

Quadriceps femoris - keeps the leg extended at the knee and the thigh flexed at the hip.

Anterior compartment of the leg - maintains the ankle dorsiflexion, positioning the heel for the strike.

After the heel strike stage, the rest of the leading foot hits the ground, and the muscles work to cope with the force passing through the leg. This is known as the support stage.

Quadriceps femoris - stabilises the knee in extension, supporting the weight of the body.

Foot inverters and evertors - contract in a balanced manner to stabilise the foot.

Gluteus minimus, gluteus medius and tensor fascia lata - abduct the lower limb. Their contraction keeps the pelvis level by counteracting the imbalance created from having most of the body weight on one leg.

In the toe-off phase, the foot prepares the leave the ground - heel first, toes last.

Hamstring muscles - extends the thigh at the hip.

Quadriceps femoris -maintains the extended position of the knee.

Posterior compartment of the leg - plantarflexes the ankle. The prime movers include gastrocnemius, soleus and tibialis posterior.

Once the foot has left the ground, the lower limb is raised in preparation for the swing stage.

Iliopsoas and rectus femoris - flexes the thigh at the hip, driving the knee forwards.

Hamstring muscles - flexes the leg at the knee joint.

Anterior compartment of the leg - dorsiflexes the ankle.

In the swing phase, the raised leg is propelled forward. This is where the forward motion of the walk occurs.

Iliopsoas and rectus femoris - keep the thigh flexed at the hip, resisting gravity as it tries to pull the lower extremity down.

Quadriceps femoris - extends the leg at the knee, positioning the foot for landing.

Anterior compartment of the leg - maintains ankle dorsiflexion so that the heel is in place for landing.

Next, the heel hits the ground, and the whole cycle repeats.

Clinical Relevance: Characteristic Gaits

Trendelenburg Gait

During the leg lift and swing phases of walking, the body weight is placed on one limb. The key abductor muscles (the gluteus medius and gluteus minimus) contract to stop the pelvis dropping towards the raised leg, as gravity would otherwise dictate.

A patient with malfunctioning hip abductors will present with a positive Trendelenburg sign: their pelvis drops towards the side of the raised limb. The positive sign signifies that the abductor muscles on the standing limb are weakened or paralysed. For example, if the left leg was raised, and pelvic drop was observed on that side, the abductor muscles on the right leg are the cause. The injury can either be neurogenic (in which the superior gluteal nerve is damaged) or myogenic (in which the muscle fibres are stretched or weakened but the nerve remains functional). A myogenic cause can be addressed with muscle strengthening exercises and physical therapy; a neurogenic cause is more difficult and sometimes impossible to treat.

During walking, a weakness in the abductor muscles gives rise to a characteristic gait. As the pelvis drops on one side, the trunk lurches to the opposite side, in an effort to maintain balance.

During the next step, the trunk is whipped back over the pelvis towards centre. Often the momentum of this is too much for the abdominals, causing the trunk to overcompensate and fall slightly past centre to the opposite side. This highly recognisable lurching walk is called the Trendelenburg gait.

Footdrop is another characteristic gait, which is caused by damage to the common or deep fibular nerve. The common fibular nerve wraps around the head of fibula, so blunt trauma or fracture here can lead to foot drop.

The deep fibular nerve innervates the muscles in the anterior compartment of the leg. These muscles dorsiflex the foot, which is required during the swing phase to clear the toes away from the ground.

If the deep fibular nerve is damaged, then the foot cannot be dorsiflexed, and drags along the ground during the swing phase. To compensate for the lack of dorsiflexion during the swing phase, the patient may evert the foot in a sudden motion, called an ' eversion flick'.

Another common compensatory movement is hyperflexion of the thigh at the hip to help the dropped foot clear the floor, known as "high steppage gait."

Antalgic Gait

An antalgic gait is a gait that results from pain on weight-bearing. It is characterised by a shortened stance phase and is most commonly seen in patients with chronic musculoskeletal pain.

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The typical walk consists of a repeated gait cycle. The cycle itself contains two phases - a stance phase and a swing phase: Stance phase: Accounts for 60% of the gait cycle. It can be divided into the heel strike, support and toe-off phases.

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https://www.youtube.com/watch?v=1u6d1CX7o9c

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https://www.youtube.com/watch?v=DGOmN6rnsNk&t=372s

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https://www.youtube.com/watch?v=xWwLFbvLLaY

great video, highly recommend watching it

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The limping Child and a high yield facts.

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https://geekymedics.com/non-accidental-injury-nai/

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Although several cases of non-accidental injury have appeared in the media recently, from Victoria Climbié who died in 2000 at 8 years old to 'Baby P' who died aged 17 months old in 2007, these are merely the tip of the iceberg. Non-accidental injury (NAI) is a recurring problem within paediatrics and it is our duty as healthcare professionals to be as vigilant as possible.

Prevalence

Nearly 14 million children live in the UK. The NSPCC estimates that of these, over 58,000 are in need of protection from abuse. However, for every child identified, many more are suffering from abuse which has not been recognised. 1,2

The prevalence of identified abuse is rising; the number of children in the child protection system continues to rise, with 63% of these in 2019 being due to abuse or neglect. ³

It is not possible to accurately identify the prevalence of non-accidental injury because abuse is both under-recognised and under-recorded. However, nearly 6% of under 11-year-old children and 19% of 11-17-year-olds reported experiences of maltreatment or neglect in one survey. 4 Nearly 10% of children reported in this same survey that they had been sexually abused in the last year.

Risk factors

History of Intimate Partner Violence and Abuse (IPV)

This abusive behaviour can be physical, sexual, psychological, emotional, verbal, financial, and encompasses coercive control.

IPV is common - at least 750,000 children per year witness IPV at home⁵

One large study found that where IPV occurs in the home within the first 6 months of a child's life, physical abuse is 3.4 times more likely than if IPV was not present.⁶

This may be an issue highlighted in the child's notes, or signs may be present at a consultation.

Questions that can be asked are shown below (based on the RCPCH child protection companion).⁷

If IPV is suspected but not documented discuss immediately with a senior colleague.

Indirect questions

Is everything ok at home?

Is your partner supportive?

If the woman is pregnant:

Are you being looked after properly?

Is your partner taking care of you?

Direct questions

Do you ever feel frightened of your partner?

Have you ever been in a relationship where you have been hit or hurt in some way?

Are you currently in a relationship where this is happening to you?

Substance Abuse or Mental Health Condition in One or Both Caregivers

This can increase the risk of NAI through increased burden on the caregiver/caregivers.7,8

Excessive Crying

Excessive crying, especially aged 0-4 months old, has been identified as a trigger for shaking of infants. This is a common cause of NAI, hence excessive crying is a risk factor for NAI within the infant population.⁹

Unintended Pregnancy

Although the majority of children whose conception was not planned are not subject to abuse, a large-scale study found that unintended pregnancy carried an odds ratio of 2.92 for maltreatment/NAI.¹⁰

Developmental Problems

Children with developmental concerns were twice as likely to suffer maltreatment (OR 1.99) during a large-scale study within the UK.¹⁰ This may be due to the increased burden on caregivers, caused by these children's complex health needs.

Presentation

Safeguarding should form part of every paediatric consultation, and below are a series of injuries which the most current set of NICE guidelines identifies as suspicious for NAI.

As well as the presentation itself, the history and timeframe should be taken in to account. A patient who presents late with an obvious injury should arouse suspicion as should an implausible history for the presenting complaint.

Bruises

Shape of bruises

Worrying bruises are those shaped like hands, linear bruises, ligatures or an identifiable implement.

Pattern of bruises

Bruises on non-bony parts of the body or face/ears.

Multiple bruises or clustered bruises.

Age of bruises

Always be suspicious of bruises in a child who cannot mobilise

Remember "if they can't cruise they don't bruise"

Bites

Any bite which appears to be human should be treated as suspicious.

Bites may be caused by other children but even when bite marks are small, an adequate explanation should be sought.

Animal bites may not be classical NAI but can be a sign of a poorly supervised child.

Lacerations/Abrasions

A high index of suspicion should be present when lacerations or abrasions are seen:

An adequate explanation should always be sought for the injuries described above.

Thermal Injuries

Affected area

Suspect NAI where thermal injuries are in locations you would not expect to come into contact with a hot object:

Shape of the burn/scald

Suspect NAI where an injury is in the shape of a conceivable implement such as a cigarette or iron

Scalds with sharply delineated borders should arouse suspicion (consider immersion injury)

Fractures

Fractures, single or multiple, in children without a medical condition predisposing them to fragile bones, should be investigated for NAI.

Fractures of different ages, especially where there is no documentation of caregivers seeking medical attention, are highly suspicious of NAI.

Metaphyseal corner fractures - reported as almost pathognomonic of NAI.

Evidence of occult rib fractures is also a common finding in infants/children who have been grabbed by the chest and squeezed/shaken.

Spiral fractures are a result of twisting forces so cannot be caused by simple falling, and are highly suspicious of NAI

Intracranial Injuries

Suspect NAI where intracranial injury presents:

Without an adequate explanation

In a child under 3 years old

In the presence of:

Retinal haemorrhage

Rib or long bone fractures

Other associated injuries

With multiple subdural haemorrhages

Eye Trauma

Retinal haemorrhages with no medical explanation are highly suspicious for NAI.

Other

Spinal injuries or visceral injuries without a history of major trauma should be thoroughly investigated for suspected NAI.

Differential Diagnoses

Although it is our job to protect the children in our care, by identifying NAI where it is present, we must still consider that children are generally prone to injury. Infants, children and adolescents can often be injured perfectly innocently and so differential diagnoses must be considered when investigating for suspected NAI.

Coagulopathy

This may lead to excessive bruising and haemarthrosis.

A family history would most likely be present, but coagulation screening should be undertaken to rule this out.

Osteogenesis Imperfecta

A family history may be present, and the condition would typically be detected early in life.

X-ray findings typically show decreased bone density, so a skeletal survey would rule this out.

Imaging

The Royal College of Radiologists (RCR) has produced professional guidance on the imaging requirements when NAI is suspected, laying out which investigations should be performed and when in relation to initial presentation.

Skeletal Survey

Head/chest (including AP and lateral skull)

Spine/pelvis

Upper limbs

Lower limbs

Follow-up Imaging

Skeletal survey should be repeated at 11-14 days.

This is to ensure that injuries too new to appear on the initial skeletal survey are detected.

11-14 days is used as this is the maximal time take for the periosteal reaction to occur, allowing fractures to be visualised on X-ray.

Neurological Imaging

Imaging modality depends on the timing of the presentation, and a full algorithm can be found in the RCR guidance document.

Acute presentation

CT head should be performed as soon as the patient has been stabilised, on the day of presentation.

Non-acute presentation

MRI head should be performed as soon as possible, within a week of presentation.

Alternative Skeletal Imaging

CT is more sensitive in diagnosing rib fractures, but carries a higher radiation dose and so may be used if rib fractures are suspected, but CT Chest is not currently routine.

Ultrasound can be used to diagnose metaphyseal and rib fractures as well as identifying subperiosteal fluid.

Reporting

In all cases of suspected NAI, children's services should be involved from a very early stage and will coordinate with other agencies:

The child may be admitted to a paediatric ward as a place of safety whilst a social worker makes urgent enquiries and puts a safety plan in place.

Senior paediatric/child protection review should be undertaken.

A skeletal survey should be considered.

If abusive head trauma is suspected, the child should be referred for ophthalmology review to identify possible retinal haemorrhages.¹³

Other Children at Risk

You MUST identify any other related/associated children as they may also be at risk. Child Protection, Social Services and Police colleagues will play a key role in this, but it is vital to protect any other children who may be at risk. Hence it is always best to establish who else is in the home and if the child has siblings when taking any paediatric history.

References

1. Rao, S. and Lux, A.L. 2012. The epidemiology of child maltreatment. Paediatrics and Child Health. Vol22(11) pp459-464. Available from: [LINK]

2. NSPCC. How safe are our children? 2013. 2013. Available from [LINK]

3. Department of Education. Children looked after in England (including adoption) ending 31st March 2019. Available from: [LINK]

4. Radford LCS, Bradley C, Fisher H, Bassett C, Howat N, Collishaw S, Child abuse and neglect in the UK today. 2011.

5. Department of Health (2005). Responding to Domestic Violence: a Handbook for Health Professionals. Available from: [LINK]

6. Thackeray, J. D., Hibbard, R., Dowd, M. D. et al. 2010. Intimate Partner Violence: The Role of the Pediatrician. Pediatrics. 125(5) pp1094-1100; DOI: 10.1542/peds.2010-0451

7. Royal College of Paediatrics and Child Health. 2013 Child protection companion - 2nd edition. Available from: [LINK]

8. Gavril, A. R. Child Abuse. BMJ Best Practice. Updated February 2018. Available from: [LINK].

9. Lee, C., Barr, R., Catherine, N. et al. 2007. Age-Related Incidence of Publicly Reported Shaken Baby Syndrome Cases: Is Crying a Trigger for Shaking? Journal of Developmental & Behavioral Pediatrics. 28(4) pp288-293. DOI: 10.1097/DBP.0b013e3180327b55

10. Sidebotham, P., Heron, J. and ALSPAC Study Team. 2003. Child maltreatment in the "Children of the Nineties:" the role of the child. Child Abuse Neglect 27. pp337-352

11. National Institute for Clinical Excellence. 2009 (updated 2017). Child maltreatment: when to suspect maltreatment in under 18s Clinical guideline [CG89]. Available from: [LINK]

12. Society and College of Radiographers and The Royal College of Radiologists. 2018. The radiological investigation of suspected physical abuse in children, revised first edition. London: The Royal College of Radiologists.

13. The Royal College of Paediatrics and Child Health and The Royal College of Ophthalmologists. 2013. Abusive Head Trauma and the Eye in Infancy. Scientific Department, The Royal College of Ophthalmologists, London

Reviewer

Dr Sunil Bhopal
Senior Paediatric Registrar
Editor

Dr Thomas Finnerty
Paediatric Lead

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Non-Accidental Injury (NAI) | Geeky Medics

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Although several cases of non-accidental injury have appeared in the media recently, from Victoria Climbié who died in 2000 at 8 years old to 'Baby P' who died aged 17 months old in 2007, these are merely the tip of the iceberg.

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https://zerotofinals.com/medicine/rheumatology/

great website to recap on different conditions.

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WordPress Theme built by Shufflehound. Copyright 2016-2022 - Zero to Finals - All Rights Reserved

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From Mr Sanghrajka's 'Limping Child' lecture

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DDH - Developmental dysplasia of the hip
SCFE - Slipped capital femoral epiphysis

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Felt this was important to remember

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https://teachmeanatomy.info/neuroanatomy/structures/basal-ganglia/

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The Basal Ganglia - Direct - Indirect - Nuclei- TeachMeAnatomy

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The basal ganglia consist of a number of subcortical nuclei. The grouping of these nuclei into the basal ganglia is related to function much rather than anatomy: its components are not part of a single anatomical unit and are rather spread deep within the brain.

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https://www.physio-pedia.com/Duchenne_Muscular_Dystrophy

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Original Editor - Rachael Lowe

Duchenne muscular dystrophy (DMD) is a genetic condition which affects the muscles, causing muscle weakness. It is a serious condition which starts in early childhood. The muscle weakness is not noticeable at birth, even though the child is born with the gene which causes it. The weakness develops gradually, usually noticeable by the age of three. Symptoms are mild at first but become more severe as the child gets older.

Duchenne muscular dystrophy, the most common type, is one of more than 20 muscular dystrophies. The incidence of DMD globally is every 1/3500 male births That means that there is approximately 2400 individuals living with DMD in the UK alone.

Becker Muscular Dystrophy

Varies;

1 in 18,000 - 1 in 31, 000

* Learn to walk later

* Experience muscle cramps when exercising

All types of muscular dystrophies are caused by faults in genes (the units of inheritance that parents pass on to their children) which result in progressive muscle weakness due to muscle cells breaking down and gradually becoming lost. The Duchenne type dystrophy is an X-linked genetic disorder affecting primarily boys (with extremely rare exceptions) and a problem in this gene is known to result in a defect in a single important protein in muscle fibres called dystrophin. It is named after Dr Duchenne de Boulogne who worked in Paris in the mid-19th century who was one of the first people to study the muscular dystrophies.

Clinically relevant anatomy

Dystrophin is responsible for connecting the cytoskeleton of each muscle fiber to the underlying basal lamina. The absence of dystrophin stops calcium entering the cell membrane affecting the signalling of the cell, water enters the mitochondria causing the cell the burst. In a complex cascading process that involves several pathways, increased oxidative stress within the cell damages the sarcolemma resulting in the death of the cell, and muscle fibers undergo necrosis and are replaced with connective tissue.

Small amounts of dystrophin are also made in nerve cells (neurons) in specific parts of the brain, including the hippocampus. The hippocampus is the part of the brain involved in learning and memory, as well as emotions. The non-progressive memory and learning problems, as well as social behavioural problems, in some boys with DMD, are most likely linked to loss of dystrophin in the neurons of the hippocampus and other parts of the brain where dystrophin is normally produced in small amounts, however, studies are being carried out to find out why only a small no. of DMD individuals are affected by this.

Mechanism of Injury / Pathological Process

The cause is a mutation in the gene that encodes the 427-kDa cytoskeletal protein dystrophin which affects the muscles. People with DMD have a shortage of dystrophin in their muscles. The lack of dystrophin leads to muscle fibre damage and a gradual weakening of the muscles.

The muscle weakness is mainly in the 'proximal' muscles, which are those near the trunk of the body, around the hips and the shoulders. Weakness typically starts proximally in the lower extremities, then moves distally. Weakness in the upper extremities tends to appear later. This means that fine movements, such as those using the hands and fingers, are less affected than movements like walking.

The symptoms usually start around age 1-3 years, and may include:

Difficulty with walking, running, jumping and climbing stairs. Walking may look different with a 'waddling' type of walk. The boy may be late in starting to walk (although many children without DMD also walk late).

When you pick the child up, you may feel as if he 'slips through your hands', due to the looseness of the muscles around the shoulder.

Toe-walking, In this gait pattern, children walk on their toes with feet apart to help maintain balance, with an increased curve in the lower back.

Frequent falls

The calf muscles may look bulky, although they are not strong.

As he gets older, the child may use his hands to help him get up, looking as if he is 'climbing up his legs'. This is called 'Gower's sign'.

Some boys with DMD also have a learning difficulty. Usually, this is not severe.

Sometimes, a delay in development may be the first sign of DMD. The child's speech development may also be delayed. Therefore, a boy whose development is delayed may be offered a screening test for DMD. However, DMD is only one of the possible causes of developmental delay - there are many other causes not related to DMD.

Contractures are a classic finding in DMD. It develops when tissues, such as muscle fibers, which are normally stretchy are replaced by hardened, non-stretchy tissue. They are seen as a major cause of disability. They prevent normal movement, and, for children with DMD, occur often in the legs, especially the calf and muscles around the hip

Progressive enlargement of heart

The diagnosis may be suspected because of the child's symptoms (above). When looking for signs of DMD, it is important to watch the child running and getting up from the floor - the muscle weakness is more noticeable during these activities.

Gower's Sign is a very common physical finding for boys with Duchenne's. It involves using their hands to 'climb' up their legs in order to stand up. It is due to a weakness in the child's hip muscles.

Tests are needed before DMD can be diagnosed. The first step in making the diagnosis is a blood test. This tests for creatine kinase. Children with DMD always have a very high level of creatine kinase (about 10-100 times normal). Therefore if a child's creatine kinase level is normal, then DMD is ruled out. If the creatine kinase level is high, further tests are needed to see whether this is due to DMD or to some other condition.

The next step in diagnosing DMD involves either a muscle biopsy and/or genetic tests:

1. A muscle biopsy involves taking a small sample of a muscle, under local anaesthetic. The sample is examined under a microscope using special techniques to look at the muscle fibres and the dystrophin protein.

2. Genetic tests are done using a blood sample. The DNA in the blood is tested to look at the dystrophin gene. This test can diagnose most cases of DMD.

Outcome measures for a DMD individual vary according to the progression of the disease.

Outcome measures to quantify disease progression, including:

One of the limitations of these measures is the fact they target either ambulant or non‐ambulant patients. However, as the disease progresses, the outcome measures change making it difficult to use a single outcome measure to analyse the patient. Studies are being carried out to create a uniform measure for the muscular dystrophies.

(see Outcome Measures Database)

Management / Interventions

Sadly, there is no cure for Duchenne's, but there are ways to help improve the individual's quality of life and provide help for the stage they are in.

Mobility aids will be given to help the child be as independent as possible. This can include a walker in the beginning phases and can progress to a motorized wheelchair. In-home hoists are useful for the carers when they need help to transfer the child. Standing frames also become useful when the child can no longer stand on their own. This helps the child gain the benefits of standing, such as increased bone density, and stretching the muscles even if the child cannot stand on their own. Knee-ankle-foot orthosis may be used as well. They have been found to prolong the child's independent mobility. These should be used alongside mobility aids, such as a zimmer frame . Staying as active as possible is recommended. Bedrest can make the muscle-weakening worse.

Steroids are commonly prescribed for children with DMD, and are the only palliative treatment. Steroids have been shown to increase the child's muscle strength and functional ability. Steroids may help delay the child becoming wheelchair dependent, however, there may be side effects. Another group of medications that have been shown to be helpful are Beta-Blockers. Heart and respiratory function slowly decline in these children and these drugs are used to help manage both these problems.

Some families may consider surgery for their child. Common surgeries for Duchenne's boys include foot surgery, insertion of a feeding tube and spinal surgeries to correct scoliosis, which may occur from being wheelchair dependent. There are many facts to consider before surgery, such as the effect general anaesthesia has on the cardiac and respiratory systems, which are already compromised in children with DMD. Families need to weigh the advantages of the surgery with the risk before making a decision. For example, evidence has been found that surgery to correct scoliosis has improved respiratory function, and it also improves the cosmetic appearance and comfort of the child , however depending on the child's cardiac and respiratory function there may be concerns about how anaesthesia will affect them.

There is no cure for DMD at present. The proactive symptom-based multidisciplinary team (MDT) management and access to non-invasive ventilation have enabled improved survival into adulthood. Males with DMD, with intervention, can now be expected to live until their 30's and 40's

For optimal management, a multidisciplinary care team who may be involved in the care include Neurologist, Cardiologist, Orthopedist, Pulmonologist, Medical Geneticist, Physical therapist and Occupational therapist.

Usually, at this stage, the child will be well and not need much treatment. What you will usually be offered is:

Provide information about DMD and patient support groups.

Referral to a specialist team (for example, a paediatrician or neurologist, physiotherapist and a specialist nurse) to monitor child health.

Advice about the right level of exercise.

Genetic advice for the family.

Between the ages of 6-11, there is a steady decline in muscle strength and by the age of 12 most children are wheelchair bound. There are further complications surrounding children being dependent on wheelchairs, such as scoliosis and respiratory problems. Some support may be needed for the legs and ankles. For example, using night-time ankle splints, or with a knee-ankle-foot orthosis. There is no evidence of significant benefit from any intervention for increasing ankle range of motion.

Treatment with corticosteroids can help to maintain the child's muscle strength. This involves taking medication such as prednisolone or deflazacort as a long-term treatment, either continuously or in repeated courses.

At some time after the age of 8 years, the child's leg muscles become significantly weaker. Walking gradually gets more difficult, and a wheelchair is needed. The age at which this happens varies from person to person. Often it is around age 9-11 years, although with corticosteroid treatment, some boys can walk for longer.

After the child starts needing a wheelchair, this is also the time that complications tend to begin, so it is important to monitor the boy's health and to treat any complications early.

Practical support and equipment will be needed at this stage, for example, wheelchairs and adaptations to the child's home and school.

Counselling and emotional support for the child and family may be helpful.

At this stage, muscle weakness becomes more problematic. Increasing help and adaptations are needed. Complications such as chest infections are likely to increase, so more medical monitoring and treatment are required.

Physiotherapy is essential to the management of Duchenne's. It is important to monitor the physical symptoms of the condition and physiotherapy can help keep the child active for as long as possible. Physiotherapists will work with the parents and carers and provide them with information and manual skills that will be helpful for the child.

Contractures are one of the major side effects that a physiotherapist will address. They will do these through a stretching routine, which can also be taught to the parents.

Physiotherapists will also be responsible for advising the parents on any orthoses, such as AFOs, and referring them with a paediatric orthotist. They will also help families choose what mobility aids and equipment the child might need.

In the early stages of the condition, the physiotherapist will be involved in helping keep the child active. During later stages of the condition, the physiotherapist will help more with respiratory issues as well.

Physiotherapists will monitor the child's posture in sitting, lying and standing. They can inform the parents of ways to help the child sit, stand and lie in optimal positions using pillows or splints. A sleep system and night splints may be recommended for nighttime to help maintain the child's posture over a long period of time.

Many physiotherapists use the NorthStar Ambulatory Assessment in order to objectively monitor the child's progression. Initiated in 2003, it is a tool designed specifically for children with DMD and has the child perform up to 17 activities, including standing, head-raising, hopping and running. This assessment is used only for children who are still able to walk. It is standardized with each child given the same instructions and their ability given a score of 0-2. It is easy to administer and can be completed in approximately 10 minutes. These are useful when consulting with other medical practitioners and letting them know where the child is physical condition.

Due to the wasting of the muscle caused by the lack of dystrophin, DMD patients will struggle with many everyday activities. Physiotherapists can help with the management of presenting neuromusculoskeletal problems. They can help slow the regression of range of motion, muscle strength, daily function, work to improve gait pattern and posture/alignment . Physiotherapy can also address the pain that the patient may be experiencing. As the patient's walking and standing abilities decline the physiotherapist may choose to implement a standing program .

In the ambulant stage, chronic cortical steroid treatment is an accepted practice. Glucocorticoid, a type of corticosteroid, is a standard of care among DMD patients. The use of steroids has been shown to help improve muscle strength and function, delay the loss of ambulation, and help maintain cardiac and respiratory function. Due to the fact that it helps with muscle strength, cortical steroids also reduce the risk of scoliosis.

Treatment plans may vary, with some patients taking steroids every day or every second day. Different dosages may also be taken.

As with all medications, there are side effects which should be taken under consideration when treating the patient. Examples of know side effects are:

Cushingoid features

Weight gain and growth inhibition

Impaired fat and glucose metabolism

Fluid retention and hypertension

Osteoporosis with increased risk of vertebral fractures

Respiratory function should be routinely checked in DMD patients. This allows physicians to monitor who may need help with assisted coughing and ventilation in the future. Examples of what evaluation of respiratory function should include are:

Spirometric measurements of FVC, FEV, and maximal mid-expiratory flow rate

Maximum inspiratory and expiratory pressure

Peak cough flow.

Carbon dioxide levels should also be monitored.

Airway clearance is of importance to prevent atelectasis and pneumonia. A variety of manual techniques can be used in clinical practice to help clear the patient's airways. Manually assisted coughing techniques are useful in patients who have a low cough peak flow rate (below 160 L/min) because self-clearance of their airways are not adequate. Expiratory force can also be increased by applying pressure to the patient's upper abdomen during their natural cough. Other manual techniques include air stacking, glossopharyngeal breathing, and positive pressure application .

Along with manual techniques, mechanical techniques and mucus mobilization devices may also prove useful.

People with DMD need extra care if they have a general anaesthetic. Certain anaesthetic medicines can cause a harmful reaction for people who have DMD. Also, extra care for the chest and breathing is needed. It is important to have a pre-operative assessment and a senior anaesthetist providing anaesthetic care.

People with DMD may develop osteoporosis. This is due to lack of mobility and also to steroid treatment. It is important to prevent osteoporosis as far as possible. A good intake of vitamin D and calcium can help. Sometimes a blood test to check vitamin D levels is advised, and vitamin D supplements may be offered.

Muscle weakness can result in joint contractures. In DMD, it is often the ankle joint and Achilles' tendon which become tight. This can be treated either using orthotic devices or by surgical release of the tendon.

Scoliosis can occur due to muscle weakness. Usually, this happens at the beginning of the second decade of life, after the patient has lost ambulation. Scoliosis can cause discomfort and is not helpful for posture and breathing. Treatments which can help are a spinal brace or surgery to the spine. Surgery has been shown to improve function and quality of life. Surgery should be done while the patient still has sufficient lung function and before cardiomyopathy becomes a major risk factor when putting the patient under anaesthesia.

Some children with DMD are prone to being overweight, especially if taking steroid treatment. Teenagers and adults with DMD may be underweight, due to loss of muscle bulk. Dietary advice can be helpful in these situations.

Constipation can be a symptom for anyone who is not mobile. This can be treated with laxatives and a high fibre diet.

In the later stages of DMD (as a young adult and older), people with DMD may have difficulty with chewing and swallowing food. They may need careful assessment and nutritional advice or supplements. If the problem is severe, then a gastrostomy may be needed.

During the teenage years, the breathing muscles weaken, causing shallow breathing and a less effective cough mechanism which can lead to chest infections. All individuals with DMD will present with restrictive lung disease. Clearance techniques and non-invasive ventilation may help.

As the breathing muscles get weaker, oxygen levels in the blood may be reduced, more so while sleeping. Because this develops gradually, the symptoms may not be obvious. Possible symptoms are tiredness, irritability, morning headaches, night time waking and vivid dreams.

Vital capacity will increase as in a normal individual until the age of ten. After the age of ten, an individual's vital capacity will decrease by approximately 8-12% each year.

It is helpful if breathing problems are detected and treated early; so patients with DMD will usually be offered regular lung function tests once they start to have significant muscle weakness.

Cardiac (Heart) Complications

Teenagers and adults with DMD may develop cardiomyopathy. Cardiomyopathy generally develops around the age of 10 and by the age of 18 all individuals with DMD will present with cardiomyopathy . In dilated cardiomyopathy, it becomes difficult for the heart to pump blood to the body because the chambers have become enlarged and the heart wall has thinned .

With DMD, the cardiomyopathy does not usually cause much in the way of symptoms. Possible symptoms are tiredness, leg swelling, shortness of breath or an irregular heartbeat. Cardiomyopathy can be helped by medication which seems to work best if started at an early stage before symptoms are noticed. So people with DMD are usually offered regular heart check-ups, starting from early childhood. The check-ups usually involve an ECG.

Other types of muscular dystrophy - particularly Becker's Muscular dystrophy, which is similar but progresses more slowly. The age of onset is usually later and clinical involvement milder. Muscle biopsy can be used as a standard for differentiating Becker's and Duchene's dystrophy.

Other myopathies- Creatinine Kinase levels are usually lower than those in DMD. Identification of deletion or mutation of relevant genes with DNA analysis confirms the diagnosis.

Polymyositis- Diagnosis is established by characteristic muscle biopsy findings of inflammation, including mononuclear invasion of non-necrotic muscle, CD8+ cytotoxic/suppressor T cells, macrophages, and absence of perifascicular atrophy of dermatomyositis. Usually, affects proximal and limb-girdle muscles.

Neurological causes of muscle weakness - eg, spinal cord lesions, spinal muscular atrophies, motor neurone disease, multiple sclerosis. These conditions are likely to have additional features, such as sensory loss, upper motor neuron lesion signs or muscle fasciculation.

Increased transaminases (aspartate aminotransferase and alanine aminotransferase, which are produced by muscle as well as liver cells). The diagnosis of DMD should thus be considered before liver biopsy in any male child with increased transaminases.

1. MEDLINEPLUS., 2014. Contracture deformity [online]. [viewed 2 October 2014]. Available from: http://www.nlm.nih.gov/medlineplus/ency/article/003185.htm

2. WALLACE, G.B. and NEWTON, R.W., 1989. Gowers' sign revisited. Archives of Disease in Childhood. Sep, vol. 64, no. 9, pp. 1317-1319.

3. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management [published correction appears in Lancet Neurol. 2018 Apr 4]. Lancet Neurol. 2018; 17(3):251-267. https://pubmed.ncbi.nlm.nih.gov/29395989.

4. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.. Lancet Neurol. 2018; 17(4):347-361. https://pubmed.ncbi.nlm.nih.gov/29395990.

5. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018; 17(5):445-455. https://pubmed.ncbi.nlm.nih.gov/29398641.

6. DI MARCO, M., YIRRELL, J., TEWNION, J., KEDDIE, A., MELVILLE, P. and HARRISON, L. DMD Scottish Physiotherapy Managment Profile. Available from: http://www.smn.scot.nhs.uk/DMD%20management%20profile%20-%20version%2020b).pdf

7. Finder JD et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med 2004;170(4):456-65.

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Original Editor - Rachael Lowe Duchenne muscular dystrophy (DMD) is a genetic condition which affects the muscles, causing muscle weakness. It is a serious condition which starts in early childhood. The muscle weakness is not noticeable at birth, even though the child is born with the gene which causes it.

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Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

A-alphalipoprotein neuropathy, see Tangier disease

A-T, see Ataxia-telangiectasia

AA, see Alopecia areata

AAA, see Triple A syndrome

AAA syndrome, see Triple A syndrome

AADC deficiency, see Aromatic l-amino acid decarboxylase deficiency

Aarskog syndrome, see Aarskog-Scott syndrome

Aarskog-Scott syndrome

AAS, see Aarskog-Scott syndrome

AASA dehydrogenase deficiency, see Pyridoxine-dependent epilepsy

Aase syndrome, see Diamond-Blackfan anemia

Aase-Smith syndrome II, see Diamond-Blackfan anemia

AAT, see Alpha-1 antitrypsin deficiency

AATD, see Alpha-1 antitrypsin deficiency

AB variant, see GM2-gangliosidosis, AB variant

ABAT deficiency, see GABA-transaminase deficiency

ABCB11-related intrahepatic cholestasis, see Benign recurrent intrahepatic cholestasis

ABCB11-related intrahepatic cholestasis, see Progressive familial intrahepatic cholestasis

ABCB4-related intrahepatic cholestasis, see Progressive familial intrahepatic cholestasis

Abdominal hernia, see Abdominal wall defect

Abdominal migraine, see Cyclic vomiting syndrome

Abdominal wall defect

Abetalipoproteinaemia, see Abetalipoproteinemia

Abetalipoproteinemia

Abetalipoproteinemia neuropathy, see Abetalipoproteinemia

ABL, see Abetalipoproteinemia

Absence defect of limbs, scalp, and skull, see Adams-Oliver syndrome

Absence epilepsy, childhood, see Childhood absence epilepsy

Absence of fingerprints, see Adermatoglyphia

Absence of vas deferens, see Congenital bilateral absence of the vas deferens

Absent corpus callosum cataract immunodeficiency, see Vici syndrome

Absent iris, see Aniridia

Absent nails, see Anonychia congenita

Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, see Genitopatellar syndrome

Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO syndrome

Absent vasa, see Congenital bilateral absence of the vas deferens

AC deficiency, see Farber lipogranulomatosis

ACAD9 deficiency

ACADM deficiency, see Medium-chain acyl-CoA dehydrogenase deficiency

ACADS deficiency, see Short-chain acyl-CoA dehydrogenase deficiency

ACADVL, see Very long-chain acyl-CoA dehydrogenase deficiency

Acanthocytosis, see Abetalipoproteinemia

Acatalasemia

Acatalasia, see Acatalasemia

ACC, see Nonsyndromic aplasia cutis congenita

ACCPN, see Andermann syndrome

ACD, see Alveolar capillary dysplasia with misalignment of pulmonary veins

ACD/MPV, see Alveolar capillary dysplasia with misalignment of pulmonary veins

ACDMPV, see Alveolar capillary dysplasia with misalignment of pulmonary veins

Aceruloplasminemia

ACH, see Achondroplasia

Achalasia-addisonian syndrome, see Triple A syndrome

Achalasia-addisonianism-alacrima syndrome, see Triple A syndrome

Achalasia-alacrima syndrome, see Triple A syndrome

Achondrogenesis

Achondrogenesis syndrome, see Achondrogenesis

Achondrogenesis type II/hypochondrogenesis, see Hypochondrogenesis

Achondroplasia

Achondroplasia, severe, with developmental delay and acanthosis nigricans, see SADDAN

Achondroplastic dwarfism, see Achondroplasia

Achromatism, see Achromatopsia

Achromatopsia

Acid ceramidase deficiency, see Farber lipogranulomatosis

Acid esterase deficiency, see Lysosomal acid lipase deficiency

Acid lipase deficiency, see Lysosomal acid lipase deficiency

Acid maltase deficiency, see Pompe disease

Acid maltase deficiency disease, see Pompe disease

ACLS, see Acrocallosal syndrome

ACMICD, see Acromicric dysplasia

Acne inversa, see Hidradenitis suppurativa

ACPS II, see Carpenter syndrome

Acquired aphasia with epilepsy, see Epilepsy-aphasia spectrum

Acral dysostosis with facial and genital abnormalities, see Robinow syndrome

Acral peeling skin syndrome

Acrocallosal syndrome

Acrocephalopolysyndactyly 2, see Carpenter syndrome

Acrocephalopolysyndactyly type II, see Carpenter syndrome

Acrocephalosyndactyly, see Apert syndrome

Acrocephalosyndactyly III, see Saethre-Chotzen syndrome

Acrocephalosyndactyly type I, see Apert syndrome

Acrocephalosyndactyly, type II, see Carpenter syndrome

Acrocephalosyndactyly, type III, see Saethre-Chotzen syndrome

Acrocephalosyndactyly, type V, see Pfeiffer syndrome

Acrocephaly, skull asymmetry, and mild syndactyly, see Saethre-Chotzen syndrome

Acrodental dysostosis of Weyers, see Weyers acrofacial dysostosis

Acroerythrokeratoderma, see Mal de Meleda

Acrofacial dysostosis 1, Nager type, see Nager syndrome

Acromicric dysplasia

Acroosteolysis dominant type, see Hajdu-Cheney syndrome

Acroosteolysis with osteoporosis and changes in skull and mandible, see Hajdu-Cheney syndrome

Acrosome malformation of spermatozoa, see Globozoospermia

ACS III, see Saethre-Chotzen syndrome

ACS V, see Pfeiffer syndrome

ACS3, see Saethre-Chotzen syndrome

ACS5, see Pfeiffer syndrome

ACTH resistance, see Familial glucocorticoid deficiency

ACTH-independent macronodular adrenal hyperplasia, see Primary macronodular adrenal hyperplasia

ACTH-independent macronodular adrenocortical hyperplasia, see Primary macronodular adrenal hyperplasia

Actin filament aggregate myopathy, see Actin-accumulation myopathy

Actin myopathy, see Actin-accumulation myopathy

Actin-accumulation myopathy

Action myoclonus-renal failure syndrome, see Action myoclonus-renal failure syndrome

Action myoclonus-renal failure syndrome

Action myoclonus-renal failure syndrome, see Action myoclonus-renal failure syndrome

Activated PI3K-delta syndrome

Activator deficiency/GM2 gangliosidosis, see GM2-gangliosidosis, AB variant

Activator-deficient Tay-Sachs disease, see GM2-gangliosidosis, AB variant

Acute febrile mucocutaneous lymph node syndrome, see Kawasaki disease

Acute generalised pustular psoriasis, see Generalized pustular psoriasis

Acute infectious polyneuritis, see Guillain-Barré syndrome

Acute inflammatory polyneuropathy, see Guillain-Barré syndrome

Acute myelogenous leukemia with normal karyotype, see Cytogenetically normal acute myeloid leukemia

Acute necrotizing encephalitis, see Acute necrotizing encephalopathy type 1

Acute necrotizing encephalopathy type 1

Acute promyelocytic leukemia

ACY1D, see Aminoacylase 1 deficiency

ACY2 deficiency, see Canavan disease

Acyl-CoA dehydrogenase 9 deficiency, see ACAD9 deficiency

Acyl-CoA dehydrogenase very long chain deficiency, see Very long-chain acyl-CoA dehydrogenase deficiency

Acyl-coenzyme A oxidase deficiency, see Peroxisomal acyl-CoA oxidase deficiency

Acylsphingosine deacylase deficiency, see Farber lipogranulomatosis

AD, see Alzheimer disease

AD, see Anauxetic dysplasia

AD-HIES, see Autosomal dominant hyper-IgE syndrome

ADA deficiency, see Adenosine deaminase deficiency

ADA-SCID, see Adenosine deaminase deficiency

ADA2 deficiency, see Adenosine deaminase 2 deficiency

Adamantiades-Behcet disease, see Behçet disease

Adams-Oliver syndrome

ADANE, see Acute necrotizing encephalopathy type 1

ADCA-DN syndrome, see Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

ADCADN, see Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

AdCSNB, see Autosomal dominant congenital stationary night blindness

ADCY5-related dyskinesia

ADD, see Attention-deficit/hyperactivity disorder

ADDH, see Attention-deficit/hyperactivity disorder

ADDH, see Pol III-related leukodystrophy

Addison disease and cerebral sclerosis, see X-linked adrenoleukodystrophy

Adducted thumbs-mental retardation syndrome, see L1 syndrome

Adenine phosphoribosyltransferase deficiency

Adenomatosis, familial endocrine, see Multiple endocrine neoplasia

Adenomatous familial polyposis, see Familial adenomatous polyposis

Adenomatous familial polyposis syndrome, see Familial adenomatous polyposis

Adenomatous polyposis coli, see Familial adenomatous polyposis

Adenosine deaminase 2 deficiency

Adenosine deaminase deficiency

Adenosine deaminase deficient severe combined immunodeficiency, see Adenosine deaminase deficiency

Adenosine monophosphate deaminase deficiency

Adenylosuccinase deficiency, see Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency

ADERM, see Adermatoglyphia

Adermatoglyphia

ADG, see Adermatoglyphia

ADH, see Autosomal dominant hypocalcemia

ADH-resistant diabetes insipidus, see Nephrogenic diabetes insipidus

ADHD, see Attention-deficit/hyperactivity disorder

Adiposalgia, see Adiposis dolorosa

Adipose tissue rheumatism, see Adiposis dolorosa

Adiposis dolorosa

ADLD, see Autosomal dominant leukodystrophy with autonomic disease

ADLTE, see Autosomal dominant partial epilepsy with auditory features

ADNFLE, see Autosomal dominant nocturnal frontal lobe epilepsy

ADNP syndrome

ADNP-related intellectual disability and autism spectrum disorder, see ADNP syndrome

ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder, see ADNP syndrome

ADOA, see Optic atrophy type 1

Adolescent idiopathic scoliosis

Adolescent myoclonic epilepsy, see Juvenile myoclonic epilepsy

ADPEAF, see Autosomal dominant partial epilepsy with auditory features

Adrenal Cushing syndrome due to AIMAH, see Primary macronodular adrenal hyperplasia

Adrenal hyperplasia V, see 17 alpha-hydroxylase/17,20-lyase deficiency

Adrenal hyperplasia, hypertensive form, see Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Adrenal hypoplasia congenita, see X-linked adrenal hypoplasia congenita

Adrenal unresponsiveness to ACTH, see Familial glucocorticoid deficiency

Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, see Primary macronodular adrenal hyperplasia

ADSL deficiency, see Adenylosuccinate lyase deficiency

Adult neuronal ceroid lipofuscinosis, see CLN4 disease

Adult onset ataxia with oculomotor apraxia, see Ataxia with oculomotor apraxia

Adult polyglucosan body disease

Adult premature aging syndrome, see Werner syndrome

Adult progeria, see Werner syndrome

Adult Refsum disease, see Refsum disease

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms, see Autosomal dominant leukodystrophy with autonomic disease

Adult-onset diabetes, see Type 2 diabetes

Adult-onset diabetes mellitus, see Type 2 diabetes

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ADVIRC, see Autosomal dominant vitreoretinochoroidopathy

Adynamia episodica hereditaria, see Hyperkalemic periodic paralysis

AEC syndrome, see Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEG syndrome, see SOX2 anophthalmia syndrome

AEXS, see Aromatase excess syndrome

AFD1, see Nager syndrome

Affective disorder, seasonal, see Seasonal affective disorder

Afibrinogenemia, see Congenital afibrinogenemia

African hemochromatosis, see African iron overload

African iron overload

African nutritional hemochromatosis, see African iron overload

African siderosis, see African iron overload

AGA deficiency, see Aspartylglucosaminuria

Agammaglobulinemia, see X-linked agammaglobulinemia

Aganglionic megacolon, see Hirschsprung disease

AGAT deficiency, see Arginine:glycine amidinotransferase deficiency

Age-related hearing impairment, see Age-related hearing loss

Age-related hearing loss

Age-related macular degeneration

Age-related maculopathy, see Age-related macular degeneration

Agenesis of cerebellar vermis, see Joubert syndrome

Agenesis of corpus callosum with chorioretinal abnormality, see Aicardi syndrome

Agenesis of corpus callosum with infantile spasms and ocular abnormalities, see Aicardi syndrome

Agenesis of corpus callosum with neuronopathy, see Andermann syndrome

Agenesis of corpus callosum with peripheral neuropathy, see Andermann syndrome

Agenesis of corpus callosum with polyneuropathy, see Andermann syndrome

Aggressive fibromatosis, see Desmoid tumor

AGL deficiency, see Glycogen storage disease type III

AGM1 deficiency, see PGM3-congenital disorder of glycosylation

Agnogenic myeloid metaplasia, see Primary myelofibrosis

AGS, see Aicardi-Goutières syndrome

AH, see Autosomal recessive hypotrichosis

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, see Xia-Gibbs syndrome

AHUS, see Atypical hemolytic-uremic syndrome

AI, see Amelogenesis imperfecta

Aicardi Goutieres syndrome, see Aicardi-Goutières syndrome

Aicardi syndrome

Aicardi's syndrome, see Aicardi syndrome

Aicardi-Goutieres syndrome, see Aicardi-Goutières syndrome

Aicardi-Goutières syndrome

AIMAH, see Primary macronodular adrenal hyperplasia

AIPDS, see Otulipenia

AIRE deficiency, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Airsickness, see Motion sickness

AIS, see Adolescent idiopathic scoliosis

AIS, see Androgen insensitivity syndrome

AKU, see Alkaptonuria

Al-Aqeel Sewairi syndrome, see Multicentric osteolysis, nodulosis, and arthropathy

Alacrima-achalasia-adrenal insufficiency neurologic disorder, see Triple A syndrome

Alactasia, see Lactose intolerance

Alagille syndrome

Alagille's syndrome, see Alagille syndrome

Alagille-Watson syndrome, see Alagille syndrome

Albinism and complete nerve deafness, see Tietz syndrome

Albinism, ocular, see Ocular albinism

Albinism, oculocutaneous, see Oculocutaneous albinism

Albinism-deafness of Tietz, see Tietz syndrome

Albipunctate retinal dystrophy, see Fundus albipunctatus

Albright hereditary osteodystrophy-like syndrome, see 2q37 deletion syndrome

Albright syndrome, see McCune-Albright syndrome

Albright's disease, see McCune-Albright syndrome

Albright's disease of bone, see McCune-Albright syndrome

Albright's syndrome, see McCune-Albright syndrome

Albright's syndrome with precocious puberty, see McCune-Albright syndrome

Albright-McCune-Sternberg syndrome, see McCune-Albright syndrome

Albright-Sternberg syndrome, see McCune-Albright syndrome

Alcaptonuria, see Alkaptonuria

Alcohol addiction, see Alcohol use disorder

Alcohol dependence, see Alcohol use disorder

Alcohol use disorder

Alcoholism, see Alcohol use disorder

ALDD, see Nakajo-Nishimura syndrome

ALDOB deficiency, see Hereditary fructose intolerance

Aldolase B deficiency, see Hereditary fructose intolerance

Aldosterone deficiency, see Corticosterone methyloxidase deficiency

Aldosterone deficiency due to deficiency of steroid 18-hydroxylase, see Corticosterone methyloxidase deficiency

Aldosterone deficiency due to deficiency of steroid 18-oxidase, see Corticosterone methyloxidase deficiency

Aldosterone synthase deficiency, see Corticosterone methyloxidase deficiency

Aldosterone-producing adenoma

Aldosterone-secreting adenoma, see Aldosterone-producing adenoma

Aldosteronism with hyperplasia of the adrenal cortex, see Bartter syndrome

Aldosteronoma, see Aldosterone-producing adenoma

Alexander disease

Alexander's disease, see Alexander disease

ALG1-CDG, see ALG1-congenital disorder of glycosylation

ALG1-congenital disorder of glycosylation

ALG12-CDG, see ALG12-congenital disorder of glycosylation

ALG12-congenital disorder of glycosylation

ALG6-CDG, see ALG6-congenital disorder of glycosylation

ALG6-congenital disorder of glycosylation

Alibert-Bazin syndrome, see Mycosis fungoides

Alkaptonuria

Allan-Herndon syndrome, see Allan-Herndon-Dudley syndrome

Allan-Herndon-Dudley syndrome

Allanson Pantzar McLeod syndrome, see Renal tubular dysgenesis

Allergic asthma

Allgrove syndrome, see Triple A syndrome

ALMS, see Alström syndrome

Alopecia areata

Alopecia circumscripta, see Alopecia areata

Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, see Alpers-Huttenlocher syndrome

Alpers disease, see Alpers-Huttenlocher syndrome

Alpers progressive infantile poliodystrophy, see Alpers-Huttenlocher syndrome

Alpers syndrome, see Alpers-Huttenlocher syndrome

Alpers-Huttenlocher syndrome

Alpha high density lipoprotein deficiency disease, see Tangier disease

Alpha thalassemia

Alpha thalassemia X-linked intellectual disability syndrome

Alpha thalassemia X-linked mental retardation syndrome, see Alpha thalassemia X-linked intellectual disability syndrome

Alpha thalassemia/mental retardation, X-linked, see Alpha thalassemia X-linked intellectual disability syndrome

Alpha-1 antitrypsin deficiency

Alpha-1 protease inhibitor deficiency, see Alpha-1 antitrypsin deficiency

Alpha-1 related emphysema, see Alpha-1 antitrypsin deficiency

Alpha-1,4-glucosidase deficiency, see Pompe disease

Alpha-aminoadipic semialdehyde deficiency disease, see Hyperlysinemia

Alpha-D-mannosidosis, see Alpha-mannosidosis

Alpha-fucosidase deficiency, see Fucosidosis

Alpha-galactosidase A deficiency, see Fabry disease

Alpha-galactosidase B deficiency, see Schindler disease

Alpha-galNAc deficiency, Schindler type, see Schindler disease

Alpha-LCAT deficiency, see Fish-eye disease

Alpha-lecithin:cholesterol acyltransferase deficiency, see Fish-eye disease

Alpha-mannosidase B deficiency, see Alpha-mannosidosis

Alpha-mannosidase deficiency, see Alpha-mannosidosis

Alpha-mannosidosis

Alpha-methylacetoacetic aciduria, see Beta-ketothiolase deficiency

Alpha-methylacyl-CoA racemase deficiency

Alpha-N-acetylgalactosaminidase deficiency, see Schindler disease

Alpha-NAGA deficiency, see Schindler disease

Alpha-thalassemia, see Alpha thalassemia

Alpha-thalassemia X-linked mental retardation syndrome, see Alpha thalassemia X-linked intellectual disability syndrome

Alpha-thalassemia/mental retardation syndrome, nondeletion type, see Alpha thalassemia X-linked intellectual disability syndrome

Alport syndrome

ALPS, see Autoimmune lymphoproliferative syndrome

ALS, see Amyotrophic lateral sclerosis

ALSP, see Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Alstrom syndrome, see Alström syndrome

Alstrom-Hallgren syndrome, see Alström syndrome

Alström syndrome

Alternating hemiplegia of childhood

Alternating hemiplegia syndrome, see Alternating hemiplegia of childhood

Alveolar capillary dysplasia, see Alveolar capillary dysplasia with misalignment of pulmonary veins

Alveolar capillary dysplasia with misalignment of pulmonary veins

ALX, see Alexander disease

Alymphoid cystic thymic dysgenesis, see T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Alzheimer dementia (AD), see Alzheimer disease

Alzheimer disease

Alzheimer sclerosis, see Alzheimer disease

Alzheimer syndrome, see Alzheimer disease

Alzheimer's disease, see Alzheimer disease

Alzheimer-type dementia (ATD), see Alzheimer disease

AMACR deficiency, see Alpha-methylacyl-CoA racemase deficiency

Amaurosis, Leber congenital, see Leber congenital amaurosis

AMCD1, see Distal arthrogryposis type 1

AMCX1, see X-linked infantile spinal muscular atrophy

AMD, see Pompe disease

AMD, see Age-related macular degeneration

Amelogenesis imperfecta

Aminoacylase 1 deficiency

Aminoacylase 2 deficiency, see Canavan disease

Amish brittle hair syndrome, see Trichothiodystrophy

Amish infantile epilepsy syndrome, see GM3 synthase deficiency

Amish lethal microcephaly

Amish microcephaly, see Amish lethal microcephaly

AML M3, see Acute promyelocytic leukemia

AMP deaminase deficiency, see Adenosine monophosphate deaminase deficiency

AMRF, see Action myoclonus-renal failure syndrome

Amyloid cranial neuropathy with lattice corneal dystrophy, see Lattice corneal dystrophy type II

Amyloidosis due to mutant gelsolin, see Lattice corneal dystrophy type II

Amyloidosis IX, see Primary localized cutaneous amyloidosis

Amyloidosis V, see Lattice corneal dystrophy type II

Amyloidosis, Finnish type, see Lattice corneal dystrophy type II

Amyloidosis, Meretoja type, see Lattice corneal dystrophy type II

Amylopectinosis, see Glycogen storage disease type IV

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis with dementia, see Amyotrophic lateral sclerosis

Amyotrophic neuralgia, see Hereditary neuralgic amyotrophy

Amyotrophy, thenar, of carpal origin, see Carpal tunnel syndrome

Anal-ear-renal-radial malformation syndrome, see Townes-Brocks Syndrome

Analphalipoproteinemia, see Tangier disease

Anancastic neurosis, see Obsessive-compulsive disorder

Anankastic neurosis, see Obsessive-compulsive disorder

Anauxetic dysplasia

Andermann syndrome

Anders syndrome, see Adiposis dolorosa

Andersen disease, see Glycogen storage disease type IV

Andersen glycogenosis, see Glycogen storage disease type IV

Andersen syndrome, see Andersen-Tawil syndrome

Andersen's disease, see Glycogen storage disease type IV

Andersen-Tawil syndrome

Anderson disease, see Chylomicron retention disease

Anderson syndrome, see Chylomicron retention disease

Anderson-Fabry disease, see Fabry disease

Anderson-Warburg syndrome, see Norrie disease

Androgen insensitivity syndrome

Androgen receptor deficiency, see Androgen insensitivity syndrome

Androgen resistance syndrome, see Androgen insensitivity syndrome

Androgenetic alopecia

Androgenic alopecia, see Androgenetic alopecia

ANE1, see Acute necrotizing encephalopathy type 1

Anemia, dyserythropoietic, congenital, see Congenital dyserythropoietic anemia

Anemia, hereditary sideroblastic, see X-linked sideroblastic anemia

Anemia, hypochromic microcytic, with defect in iron metabolism, see Iron-refractory iron deficiency anemia

Anemia, sex-linked hypochromic sideroblastic, see X-linked sideroblastic anemia

Anencephalia, see Anencephaly

Anencephalus, see Anencephaly

Anencephaly

Anesthesia related hyperthermia, see Malignant hyperthermia

Angelman syndrome

Angelman-like syndrome, X-linked, see Christianson syndrome

Angio-osteohypertrophy syndrome, see Klippel-Trenaunay syndrome

Angiohemophilia, see Von Willebrand disease

Angiokeratoma corporis diffusum, see Fabry disease

Angiokeratoma corporis diffusum-glycopeptiduria, see Schindler disease

Angiokeratoma diffuse, see Fabry disease

Angiomatosis aculoorbital-thalamic syndrome, see Sturge-Weber syndrome

Angiomatosis retinae, see Von Hippel-Lindau syndrome

ANH1, see X-linked sideroblastic anemia

Anhidrotic ectodermal dysplasia, see Hypohidrotic ectodermal dysplasia

Anhidrotic ectodermal dysplasia with immune deficiency

Aniridia

Aniridia, cerebellar ataxia, and mental retardation, see Gillespie syndrome

Aniridia-cerebellar ataxia-intellectual disability, see Gillespie syndrome

Aniridia-cerebellar ataxia-mental deficiency, see Gillespie syndrome

Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, see Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Ankylosing spondylitis

Ankyrin-B syndrome

Annuloaortic ectasia, see Familial thoracic aortic aneurysm and dissection

Anonychia, see Anonychia congenita

Anonychia congenita

Anophthalmia-esophageal-genital syndrome, see SOX2 anophthalmia syndrome

Anophthalmia-syndactyly, see Ophthalmo-acromelic syndrome

Anophthalmia-Waardenburg syndrome, see Ophthalmo-acromelic syndrome

Anophthalmos with limb anomalies, see Ophthalmo-acromelic syndrome

Anophthalmos-limb anomalies syndrome, see Ophthalmo-acromelic syndrome

Anosmic hypogonadism, see Kallmann syndrome

Anosmic idiopathic hypogonadotropic hypogonadism, see Kallmann syndrome

ANS, see Ataxia neuropathy spectrum

Anti-phospholipid syndrome, see Antiphospholipid syndrome

Antibody deficiency and immune dysregulation, PLCG2-associated, see PLCG2-associated antibody deficiency and immune dysregulation

Antiphospholipid antibody syndrome, see Antiphospholipid syndrome

Antiphospholipid syndrome

Antithrombin III deficiency, see Hereditary antithrombin deficiency

Antley-Bixler syndrome, see Cytochrome P450 oxidoreductase deficiency

Antley-Bixler syndrome with disordered steroidogenesis, see Cytochrome P450 oxidoreductase deficiency

Antley-Bixler syndrome-like phenotype with disordered steroidogenesis, see Cytochrome P450 oxidoreductase deficiency

AO2, see Atelosteogenesis type 2

AODM, see Type 2 diabetes

AOI, see Atelosteogenesis type 1

AOIII, see Atelosteogenesis type 3

Aortic stenosis, supravalvular, see Supravalvular aortic stenosis

AOS, see Adams-Oliver syndrome

APBD, see Adult polyglucosan body disease

APC resistance, Leiden type, see Factor V Leiden thrombophilia

APDS, see Activated PI3K-delta syndrome

APECED, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Apert syndrome

Apert's syndrome, see Apert syndrome

APL, see Acute promyelocytic leukemia

Aplasia cutis congenita with terminal transverse limb defects, see Adams-Oliver syndrome

Aplastic nails, see Anonychia congenita

Apnea, obstructive, see Obstructive sleep apnea

Apolipoprotein B deficiency, see Abetalipoproteinemia

Appelt-Gerken-Lenz syndrome, see Roberts syndrome

Aprosencephaly, see Anencephaly

APRT deficiency, see Adenine phosphoribosyltransferase deficiency

APS type 1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

APS1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

APSS, see Acral peeling skin syndrome

AR deficiency, see Androgen insensitivity syndrome

AR dRTA with deafness, see Renal tubular acidosis with deafness

AR dRTA with hearing loss, see Renal tubular acidosis with deafness

AR-HIES, see DOCK8 immunodeficiency syndrome

Arakawa syndrome 1, see Glutamate formiminotransferase deficiency

ARAN-NM, see Autosomal recessive axonal neuropathy with neuromyotonia

ARCA1, see Autosomal recessive cerebellar ataxia type 1

ARD, see Refsum disease

ARG1 deficiency, see Arginase deficiency

Arginase deficiency

Arginase deficiency disease, see Arginase deficiency

Arginine:glycine amidinotransferase deficiency

Argininemia, see Arginase deficiency

Argininosuccinate lyase deficiency, see Argininosuccinic aciduria

Argininosuccinic acidemia, see Argininosuccinic aciduria

Argininosuccinic aciduria

Argininosuccinicaciduria, see Argininosuccinic aciduria

Argininosuccinyl-CoA lyase deficiency, see Argininosuccinic aciduria

Arginosuccinase deficiency, see Argininosuccinic aciduria

Arhinia choanal atresia microphthalmia, see Bosma arhinia microphthalmia syndrome

Arhinia, choanal atresia, and microphthalmia, see Bosma arhinia microphthalmia syndrome

Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism, see Bosma arhinia microphthalmia syndrome

ARMD, see Age-related macular degeneration

Aromatase deficiency

Aromatase excess syndrome

Aromatic l-amino acid decarboxylase deficiency

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy-dysplasia, see Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular dysplasia, see Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular dysplasia/cardiomyopathy, see Arrhythmogenic right ventricular cardiomyopathy

ARS, see Axenfeld-Rieger syndrome

ARSA deficiency, see Metachromatic leukodystrophy

ARSACS, see Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly, see Grange syndrome

Arterial tortuosity, see Arterial tortuosity syndrome

Arterial tortuosity syndrome

Arteriohepatic dysplasia (AHD), see Alagille syndrome

Arteriopathia calcificans infantum, see Generalized arterial calcification of infancy

Arthritis, degenerative, see Osteoarthritis

Arthritis, gouty, see Gout

Arthritis, juvenile rheumatoid, see Juvenile idiopathic arthritis

Arthritis, rheumatoid, see Rheumatoid arthritis

Arthro-dento-osteo dysplasia, see Hajdu-Cheney syndrome

Arthrocutaneouveal granulomatosis, see Blau syndrome

Arthrodentoosteodysplasia, see Hajdu-Cheney syndrome

Arthrogryposis multiplex congenita, distal, type 2B, see Sheldon-Hall syndrome

Arthrogryposis multiplex congenita, distal, X-linked, see X-linked infantile spinal muscular atrophy

Arthrogryposis, distal, type 1, see Distal arthrogryposis type 1

Arthrogryposis, X-lined, type I, see X-linked infantile spinal muscular atrophy

Arthrogryposis-like syndrome, see Kuskokwim syndrome

Arthrogyroposis, distal, type 9, see Congenital contractural arachnodactyly

Arthropathic psoriasis, see Psoriatic arthritis

Arthropathy, see Osteoarthritis

Articular gout, see Gout

Arts syndrome

ARVC, see Arrhythmogenic right ventricular cardiomyopathy

ARVD, see Arrhythmogenic right ventricular cardiomyopathy

ARVD/C, see Arrhythmogenic right ventricular cardiomyopathy

Arylsulfatase A deficiency disease, see Metachromatic leukodystrophy

Arylsulfatase B deficiency, see Mucopolysaccharidosis type VI

Arylsulfatase E deficiency, see X-linked chondrodysplasia punctata 1

AS, see Ankylosing spondylitis

AS, see Angelman syndrome

ASA, see Argininosuccinic aciduria

Asadollahi-Rauch syndrome, see MED13L syndrome

ASAuria, see Argininosuccinic aciduria

ASD, see Autism spectrum disorder

Asidan ataxia, see Spinocerebellar ataxia type 36

ASL deficiency, see Argininosuccinic aciduria

ASNS deficiency, see Asparagine synthetase deficiency

ASNSD, see Asparagine synthetase deficiency

Aspa deficiency, see Canavan disease

Asparagine synthetase deficiency

Aspartoacylase deficiency, see Canavan disease

Aspartyl-tRNA synthetase deficiency, see Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Aspartylglucosamidase deficiency, see Aspartylglucosaminuria

Aspartylglucosaminidase deficiency, see Aspartylglucosaminuria

Aspartylglucosaminuria

Aspartylglycosaminuria, see Aspartylglucosaminuria

Asphyxiating thoracic chondrodystrophy, see Asphyxiating thoracic dystrophy

Asphyxiating thoracic dysplasia, see Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy

Asplenia, familial, see Isolated congenital asplenia

Asplenia, isolated congenital, see Isolated congenital asplenia

ASRAS, see MED13L syndrome

Asymbolia for pain, see Congenital insensitivity to pain

Asymmetric hypoplasia of facial structures, see Craniofacial microsomia

Ataxia neuropathy spectrum

Ataxia telangiectasia syndrome, see Ataxia-telangiectasia

Ataxia with isolated vitamin E deficiency, see Ataxia with vitamin E deficiency

Ataxia with lactic acidosis, see Pyruvate dehydrogenase deficiency

Ataxia with lactic acidosis, type II, see Pyruvate carboxylase deficiency

Ataxia with oculomotor apraxia

Ataxia with vitamin E deficiency

Ataxia, delayed dentition, and hypomyelination, see Pol III-related leukodystrophy

Ataxia, fatal X-linked, with deafness and loss of vision, see Arts syndrome

Ataxia-deafness-optic atrophy, lethal, see Arts syndrome

Ataxia-hypogonadism-choroidal dystrophy syndrome, see Boucher-Neuhäuser syndrome

Ataxia-pancytopenia syndrome

Ataxia-telangiectasia

Ataxia-telangiectasia variant 1, see Nijmegen breakage syndrome

ATD, see Asphyxiating thoracic dystrophy

Atelosteogenesis de la Chapelle type, see Atelosteogenesis type 2

Atelosteogenesis type 1

Atelosteogenesis type 2

Atelosteogenesis type 3

Atelosteogenesis type I, see Atelosteogenesis type 1

Atelosteogenesis type III, see Atelosteogenesis type 3

Atelosteogenesis, type 2, see Atelosteogenesis type 2

ATM, see Ataxia-telangiectasia

Atopic dermatitis

Atopic eczema, see Atopic dermatitis

ATP synthase deficiency, see Mitochondrial complex V deficiency

ATP8B1-related intrahepatic cholestasis, see Progressive familial intrahepatic cholestasis

ATP8B1-related intrahepatic cholestasis, see Benign recurrent intrahepatic cholestasis

ATR-X syndrome, see Alpha thalassemia X-linked intellectual disability syndrome

Atrial fibrillation, familial, see Familial atrial fibrillation

Atrio-digital syndrome, see Holt-Oram syndrome

Atriodigital dysplasia, see Holt-Oram syndrome

Atrophia bulborum hereditaria, see Norrie disease

ATRX syndrome, see Alpha thalassemia X-linked intellectual disability syndrome

ATS, see Arterial tortuosity syndrome

ATS, see Andersen-Tawil syndrome

Attention deficit, see Attention-deficit/hyperactivity disorder

Attention deficit disorder, see Attention-deficit/hyperactivity disorder

Attention deficit disorder of childhood with hyperactivity, see Attention-deficit/hyperactivity disorder

Attention deficit disorder with hyperactivity, see Attention-deficit/hyperactivity disorder

Attention deficit disorder with hyperactivity syndrome, see Attention-deficit/hyperactivity disorder

Attention deficit hyperactivity disorder, see Attention-deficit/hyperactivity disorder

Attention-deficit/hyperactivity disorder

ATXPC, see Ataxia-pancytopenia syndrome

Atypical hemolytic-uremic syndrome

Atypical Philadelphia-negative chronic myeloid leukemia, see PDGFRB-associated chronic eosinophilic leukemia

Au-Kline syndrome

Auditory vertigo, see Ménière disease

AUH defect, see 3-methylglutaconyl-CoA hydratase deficiency

Aural vertigo, see Ménière disease

Auricular fibrillation, see Familial atrial fibrillation

Auriculo-condylar syndrome

Auriculobranchiogenic dysplasia, see Craniofacial microsomia

Auriculocondylar syndrome, see Auriculo-condylar syndrome

Austin syndrome, see Multiple sulfatase deficiency

Autism spectrum disorder

Autism, susceptibility to, 14A, see 16p11.2 deletion syndrome

Autism, susceptibility to, 14B, see 16p11.2 duplication

Autism-dementia-ataxia-loss of purposeful hand use syndrome, see Rett syndrome

Autistic continuum, see Autism spectrum disorder

Autoimmune Addison disease

Autoimmune Addison's disease, see Autoimmune Addison disease

Autoimmune adrenalitis, see Autoimmune Addison disease

Autoimmune chronic lymphocytic thyroiditis, see Hashimoto thyroiditis

Autoimmune diabetes, see Type 1 diabetes

Autoimmune hyperthyroidism, see Graves disease

Autoimmune lymphoproliferative syndrome

Autoimmune polyendocrinopathy syndrome type 1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune polyglandular syndrome, type 1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune thrombocytopenia, see Immune thrombocytopenia

Autoimmune thrombocytopenic purpura, see Immune thrombocytopenia

Autoimmune thyroiditis, see Hashimoto thyroiditis

Autoimmunity-immunodeficiency syndrome, X-linked, see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Autoinflammation, lipodystrophy, and dermatosis syndrome, see Nakajo-Nishimura syndrome

Autoinflammation, panniculitis, and dermatosis syndrome, see Otulipenia

Autosomal dominant acute necrotizing encephalopathy, see Acute necrotizing encephalopathy type 1

Autosomal dominant adult-onset demyelinating leukodystrophy, see Autosomal dominant leukodystrophy with autonomic disease

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome, see Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Autosomal dominant cerebrovascular amyloidosis, see Hereditary cerebral amyloid angiopathy

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, see Spinal muscular atrophy with lower extremity predominance

Autosomal dominant congenital stationary night blindness

Autosomal dominant craniometaphyseal dysplasia, see Craniometaphyseal dysplasia

Autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Autosomal dominant familial periodic fever, see Tumor necrosis factor receptor-associated periodic syndrome

Autosomal dominant hereditary pancreatitis, see Hereditary pancreatitis

Autosomal dominant hereditary sensory radicular neuropathy, type 1A, see Hereditary sensory neuropathy type IA

Autosomal dominant HIES, see Autosomal dominant hyper-IgE syndrome

Autosomal dominant hyaline body myopathy, see Myosin storage myopathy

Autosomal dominant hyper-IgE recurrent infection syndrome, see Autosomal dominant hyper-IgE syndrome

Autosomal dominant hyper-IgE syndrome

Autosomal dominant hyperimmunoglobulin E recurrent infection syndrome, see Autosomal dominant hyper-IgE syndrome

Autosomal dominant hypocalcemia

Autosomal dominant hypoparathyroidism, see Autosomal dominant hypocalcemia

Autosomal dominant intellectual disability 25, see Xia-Gibbs syndrome

Autosomal dominant intellectual disability-17, see PACS1 syndrome

Autosomal dominant interstitial kidney disease, see Medullary cystic kidney disease type 1

Autosomal dominant Job syndrome, see Autosomal dominant hyper-IgE syndrome

Autosomal dominant lateral temporal lobe epilepsy, see Autosomal dominant partial epilepsy with auditory features

Autosomal dominant leukodystrophy with autonomic disease

Autosomal dominant medullary cystic kidney disease, see Medullary cystic kidney disease type 1

Autosomal dominant mental retardation 35, see PPP2R5D-related intellectual disability

Autosomal dominant MYH9 spectrum disorders, see MYH9-related disorder

Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant Opitz G/BBB syndrome, see 22q11.2 deletion syndrome

Autosomal dominant optic atrophy, see Optic atrophy type 1

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy Kjer type, see Optic atrophy type 1

Autosomal dominant optic atrophy type 3, see Autosomal dominant optic atrophy and cataract

Autosomal dominant partial epilepsy with auditory features

Autosomal dominant porencephaly type 1, see Familial porencephaly

Autosomal dominant spastic paraplegia 31, see Spastic paraplegia type 31

Autosomal dominant spastic paraplegia 8, see Spastic paraplegia type 8

Autosomal dominant vitreoretinochoroidopathy

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive cerebellar ataxia type 1

Autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia

Autosomal recessive cerebellar hypoplasia with cerebral gyral simplification, see VLDLR-associated cerebellar hypoplasia

Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, see Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive chronic granulomatous disease, see Chronic granulomatous disease

Autosomal recessive complete congenital stationary night blindness, see Autosomal recessive congenital stationary night blindness

Autosomal recessive congenital methemoglobinemia

Autosomal recessive congenital stationary night blindness

Autosomal recessive craniometaphyseal dysplasia, see Craniometaphyseal dysplasia

Autosomal recessive deafness-onychodystrophy syndrome, see DOORS syndrome

Autosomal recessive distal renal tubular acidosis with deafness, see Renal tubular acidosis with deafness

Autosomal recessive distal spinal muscular atrophy 1, see Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive hereditary spastic paraplegia, see Troyer syndrome

Autosomal recessive HIES, see DOCK8 immunodeficiency syndrome

Autosomal recessive hyper-IgE syndrome, see DOCK8 immunodeficiency syndrome

Autosomal recessive hypotrichosis

Autosomal recessive incomplete congenital stationary night blindness, see Autosomal recessive congenital stationary night blindness

Autosomal recessive infantile hypercalcemia, see Idiopathic infantile hypercalcemia

Autosomal recessive infantile parkinsonism, see Tyrosine hydroxylase deficiency

Autosomal recessive Larsen syndrome, see CHST3-related skeletal dysplasia

Autosomal recessive localized hypotrichosis, see Autosomal recessive hypotrichosis

Autosomal recessive long QT syndrome (LQTS), see Jervell and Lange-Nielsen syndrome

Autosomal recessive neuromyotonia and axonal neuropathy, see Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive OPA3, see Costeff syndrome

Autosomal recessive optic atrophy 3, see Costeff syndrome

Autosomal recessive primary microcephaly

Autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter, see Pendred syndrome

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic paraplegia 15, see Spastic paraplegia type 15

Autosomal recessive spastic paraplegia 5A, see Spastic paraplegia type 5A

Autosomal recessive spastic paraplegia complicated with thin corpus callosum, see Spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 49, see Spastic paraplegia type 49

Autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, see Spastic paraplegia type 11

Autosomal recessive spinocerebellar ataxia 8, see Autosomal recessive cerebellar ataxia type 1

Autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe combined immunodeficiency, see JAK3-deficient severe combined immunodeficiency

Autosomal recessive T-B+NK- SCID, see JAK3-deficient severe combined immunodeficiency

Autosomal recessive woolly hair with or without hypotrichosis, see Autosomal recessive hypotrichosis

AUTS14A, see 16p11.2 deletion syndrome

AUTS14B, see 16p11.2 duplication

AVED, see Ataxia with vitamin E deficiency

AxD, see Alexander disease

Axenfeld and Rieger anomaly, see Axenfeld-Rieger syndrome

Axenfeld anomaly, see Axenfeld-Rieger syndrome

Axenfeld syndrome, see Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome

AXRA, see Axenfeld-Rieger syndrome

AXRS, see Axenfeld-Rieger syndrome

Ayerza syndrome, see Pulmonary arterial hypertension

Azorean ataxia, see Spinocerebellar ataxia type 3

Azorean disease, see Spinocerebellar ataxia type 3

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Am Fam Physician. 2006 Oct 15;74(8):1310-1316.

Patient information: See related handout on hip problems in infants.

Related Editorial

This article exemplifies the AAFP 2006 Annual Clinical Focus on caring for children and adolescents.

Developmental dysplasia of the hip refers to a continuum of abnormalities in the immature hip that can range from subtle dysplasia to dislocation. The identification of risk factors, including breech presentation and family history, should heighten a physician's suspicion of developmental dysplasia of the hip. Diagnosis is made by physical examination. Palpable hip instability, unequal leg lengths, and asymmetric thigh skinfolds may be present in newborns with a hip dislocation, whereas gait abnormalities and limited hip abduction are more common in older children. The role of ultrasonography is controversial, but it generally is used to confirm diagnosis and assess hip development once treatment is initiated. Bracing is first-line treatment in children younger than six months. Surgery is an option for children in whom nonoperative treatment has failed and in children diagnosed after six months of age. It is important to diagnose developmental dysplasia of the hip early to improve treatment results and to decrease the risk of complications.

The term developmental dysplasia of the hip (DDH) has replaced congenital dislocation of the hip because it more accurately reflects the full spectrum of abnormalities that affect the immature hip. DDH can predispose a child to premature degenerative changes and painful arthritis. Careful physical examination is recommended as a screening tool; early diagnosis helps improve treatment results and decrease the risk of complications.

Definitions

Hip dysplasia refers to an abnormality in the size, shape, orientation, or organization of the femoral head, acetabulum, or both. Acetabular dysplasia is characterized by an immature, shallow acetabulum and can result in subluxation or dislocation of the femoral head. In a subluxed hip, the femoral head is displaced from its normal position but still makes contact with a portion of the acetabulum. With a dislocated hip, there is no contact between the articular surface of the femoral head and the acetabulum. An unstable hip is one that is reduced in the acetabulum but can be provoked to subluxate or dislocate. Teratologic hip dysplasia, which is outside the scope of this discussion, refers to the more severe, fixed dislocation that occurs prenatally, usually in those with genetic or neuromuscular disorders.

Epidemiology and Etiology

The incidence of DDH is variable and depends on many factors. Approximately one in 1,000 children is born with a dislocated hip, and 10 in 1,000 may have hip subluxation. 1- 3 Factors contributing to DDH include breech presentation, female sex, positive family history, firstborn status, and oligohydramnios. Intrauterine position, sex, race, and positive family history are the most important risk factors.

A family history positive for DDH may be found in 12 to 33 percent of affected patients. 4, 5 The risk of DDH for a child has been documented at 6 percent when there is one affected sibling, 12 percent with one affected parent, and 36 percent if a parent and a sibling are affected. 6 Eighty percent of children with DDH are females. 7 This is postulated to be related to the effects of additional estrogen produced by the female fetus, which increases ligamentous laxity.

The left hip is affected in 60 percent of children, the right hip in 20 percent, and both hips in 20 percent. 8 The left hip is more commonly involved because it is adducted against the mother's lumbosacral spine in the most common intrauterine position (i.e., left occiput anterior).

DDH occurs more often in children who present in the breech position. 9 It is believed that in utero knee extension of the infant in the breech position results in sustained hamstring forces around the hip and contributes to subsequent hip instability. First-born children are affected twice as often as subsequent siblings, presumably because of an unstretched uterus and tight abdominal structures in the mother. In utero postural deformities and oligohydramnios also are associated with DDH. For unknown reasons, DDH is less common in black persons. 10

The postnatal extrauterine environment also plays a role in DDH. The incidence of DDH is high in Native American cultures that use swaddling, which forces the hips into adduction and extension. 11

Physical Examination

No first-line method exists for diagnosing DDH during the newborn period. However, a careful physical examination is recommended as a screening tool, particularly for high-risk infants. 12 Evaluation of the hip begins with observation of both lower extremities. 12 The diaper should be removed and the infant relaxed. Provocative dynamic tests, such as the Ortolani and Barlow maneuvers, should be performed to assess its stability. 13 Because these tests often are difficult to interpret, they should be performed routinely in children three months or younger.

Each hip must be examined separately. The child should be supine with the hips flexed to 90 degrees. The examiner should place his or her index and long fingers laterally over the child's greater trochanter with the thumb medially along the inner thigh near the groin crease. The examiner stabilizes the child's pelvis by holding the contralateral hip still while the opposite hand examines the hip. The examiner should gently abduct the hip being tested while simultaneously exerting an upward force through the greater trochanter laterally . The sensation of a palpable "clunk" is a positive Ortolani test and represents the reduction of a dislocated hip into the bony acetabulum.

To perform the Barlow test, the pelvis is stabilized and the patient is positioned similar to the Ortolani test position. The difference is that the examiner adducts the child's hip and exerts a gentle downward force in an attempt to subluxate or dislocate an unstable hip posteriorly . These tests generally are only useful in infants three months or younger. Thereafter, soft-tissue contractures limit the motion of the hip, even if it is dislocated.

In the first few months of life, an unstable hip may be noted on physical examination. If the Ortolani or Barlow test is equivocal or inconclusive on examination at birth, the physician should have the newborn return for follow-up in two weeks. 12

Asymmetric skinfolds or leg length inequality are common findings with unilateral hip dislocation , although asymmetric skinfolds are not specific to DDH. The Galeazzi sign is elicited by placing the child supine with both hips and knees flexed. An inequality in the height of the knees is a positive Galeazzi sign and usually is caused by hip dislocation or congenital femoral shortening. An infant with hip dislocation will develop limited hip abduction on the affected side by three months of age . Maximal abduction of the hips should be greater than 60 degrees, or a dislocated hip should be suspected.

Noting limited abduction is particularly important in identifying children with bilateral hip dislocations because the leg lengths (i.e., Galeazzi sign) are equal. In addition, in children who are walking, Trendelenburg's symptom (a limp on the affected side) may be the first sign of a dislocated hip. In children with established dislocations, the action of the gluteus medius in pulling the pelvis downwards in the stance phase is ineffective or weak because of a lack of a stable fulcrum.

For a child with a right hip dislocation, the pelvis drops on the opposite side (i.e., left), causing instability. To restore the stability and prevent falls to the left, the body lurches to the right side and shifts the center of gravity over the stance side (i.e., right hip). The top of the greater trochanter telescopes upward and mechanically hitches on the ilium to stabilize the joint. This movement at every stance phase is called the Trendelenburg gait. 14

Radiographic Examination

Radiographs of newborns with suspected DDH are of limited value because the femoral heads do not ossify until four to six months of age. Ultrasonography is the study of choice to evaluate for DDH in infants younger than six months because it is capable of visualizing the cartilaginous anatomy of the femoral head and acetabulum. 15- 17 It is useful in identifying dysplasia of the cartilaginous portion of the acetabulum, confirming subluxation of the hip, and documenting reducibility and stability of the hip in the infant undergoing treatment for known DDH. Ultrasonography is overly sensitive as a screening tool in the first six weeks of life, and in general should not be ordered until after that. 18

Plain radiographs are useful after four to six months of age. Several reference lines and angles are useful in evaluating the anteroposterior radiograph of the infant's pelvis . Hilgenreiner's line is drawn horizontally through the triradiate cartilages of the pelvis. Perkin's line is drawn perpendicular to Hilgenreiner's line at the lateral edge of each acetabulum. The femoral head should lie within the inferomedial quadrant formed by Hilgrenreiner's and Perkin's lines. In a dysplastic hip, the lateral edge of the acetabulum may be difficult to identify, and the femoral head may lie in the superior or lateral quadrants.

Shenton's line is curvilinear. It is defined by the medial border of the femoral neck and the superior border of the obturator foramen. A break in Shenton's line suggests displacement of the femoral head from the bony acetabulum .

The U.S. Preventive Services Task Force (USPSTF) recently concluded that evidence is insufficient to recommend routine screening for DDH in infants as a means to prevent adverse outcomes. Evidence shows that screening leads to earlier identification of DDH; however, the USPSTF concluded that 60 to 80 percent of the newborn hips identified by physical examination and more than 90 percent identified by ultrasonography as abnormal or as suspicious for DDH resolve spontaneously and require no intervention. 19

Management

The goal of treatment in DDH is to achieve and maintain reduction of the femoral head in the true acetabulum by closed or open means. The earlier treatment is initiated, the greater the success and the lower the incidence of residual dysplasia and long-term complications.

Subluxation of the hip at birth often corrects spontaneously and may be observed for two weeks without treatment. The double- or triple-diaper technique, which theoretically prevents hip adduction, has not demonstrated improved results when compared with no intervention at all. When subluxation persists beyond two weeks of age, treatment is indicated and the appropriate referral should be made. 12

In newborns and infants up to six months of age, closed reduction and immobilization in a Pavlik harness is the treatment of choice . The Pavlik harness dynamically positions the hips in flexion and abduction while allowing motion. Avascular necrosis of the femoral head has been reported with Pavlik harness treatment and may be related to hyperabduction. 20 In addition, hyperflexion has the potential to cause femoral nerve palsies.

Reduction of the hip should be confirmed by ultrasonography within three weeks of harness placement. Treatment usually is continued for at least six weeks full-time and six weeks part-time in young infants, and possibly longer in older children. The end point of brace treatment is a stable hip with normal imaging studies. If a dislocated hip is not reduced within three weeks, the harness should be discontinued and an alternative treatment selected. This usually involves closed reduction under anesthesia with hip spica casting . 21

The long-term results of Pavlik harness treatment (e.g., nonoperative treatment) show a 95 percent success rate for acetabular dysplasia and subluxation. 22, 23 The success rate drops to 80 percent for frank dislocation.

In children older than six months, closed reduction under general anesthesia and hip spica casting is the treatment of choice. Postoperative computed tomography or magnetic resonance imaging should be used to confirm concentric reduction. 24, 25 Immobilization in the hip spica cast after closed reduction usually continues for at least 12 weeks after closed reduction. 26

If the hip is irreducible by closed means, or a concentric reduction is not achieved, successful treatment requires open reduction. 27 Open reduction of the hip in a child with DDH involves lengthening tendons about the hip, removing obstacles to reduction, and tightening the hip capsule once reduction is obtained. Complications include femoral head osteonecrosis and redislocation. 28 Surgery becomes more technically demanding in older children with established dislocations. By 18 months, femoral osteotomies with or without pelvic osteotomies may be necessary to reconstruct and safely maintain the hip in a reduced position.

The goal of operative treatment of DDH is to normalize the hip joint to delay or prevent the premature onset of osteoarthritis. Intervention in early childhood, when remodeling potential is greater, provides the best opportunity for the development of a normal joint. 29 Children with untreated hip dysplasia have been shown to develop premature degenerative changes by the time they reach skeletal maturity, and develop painful arthritis in their thirties. 30 Children with hip dysplasia who are diagnosed in adolescence and undergo surgical treatment fare somewhat better but often require secondary procedures as adults for painful arthritis. 31

Joint-preserving salvage osteotomies and total hip arthroplasty are surgical options once a child has achieved skeletal maturity. Both procedures have mixed long-term results and are inferior to surgical treatment initiated at earlier ages. 32, 33 Children in whom Pavlik harness treatment is initiated before six months of age have excellent results, although long-term studies are lacking. The majority have no symptoms of arthritis, with mild radiographic abnormalities by skeletal maturity. 34, 35 A child with DDH usually requires long-term follow-up with radiographic evaluation until skeletal maturity is reached to ensure normal hip development. 36- 38

In general, the goal of the family physician in examining for DDH should be early diagnosis and referral. This is because treatment earlier in life, especially within the first six months, is safer and more successful than treatment after the child is walking.

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Developmental dysplasia of the hip refers to a continuum of abnormalities in the immature hip that can range from subtle dysplasia to dislocation. The identification of risk factors, including breech presentation and family history, should heighten a physician's suspicion of developmental dysplasia of the hip. Diagnosis is made by physical examination.

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https://cks.nice.org.uk/topics/acute-childhood-limp/diagnosis/differential-diagnosis/

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The NICE Clinical Knowledge Summary (CKS) site is only available to users in the UK, Crown Dependencies and British Overseas Territories

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Gives an overview of biomechanics and gait analysis

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By studying your walking gait and the general movement of your body we're able to use advanced techniques to treat a large number of complex issues in the lower limbs.

Biomechanics & Gait Analysis: An Overview

Biomechanics and Gait Analysis are the study of the body's function and movement and it's effect on the lower limbs. Pain in the feet, ankles, knees, hips and back can all be caused by a discrepancy in the bodies movement. This assessment allows us to identify and treat a number of complex gait issues, from injury rehabilitation, to improving sporting performance.

The Gait Cycle

A complete gait cycle begins when one foot makes contact with the ground and ends when the same foot makes contact with the ground for a second time. The two main phases that occur are the 'Stance Phase' and the 'Swing Phase' and each can have isolated problems.

If an asymmetry is present between the left and right hand side of the body or feet, then this can cause a biomechanics dysfunction, which is a change in the musculoskeletal mechanics resulting in faulty movement patterns. These 'faulty movements' will manifest as pain or a reduction in your movement potential and mobility.

A typical example would be that of a previous injury, during which time you have avoided placing normal pressure on the affected area. The result is a pathological change to your gait, otherwise known as a 'learned behaviour'. Subsequently this alteration in gait manifests further problems in other areas and is typically accentuated in walkers, runners and other athletes, due to the extra stresses they place on the muscle groups.

Orthotics

We can solve incorrect pathological gait and faulty movement patterns with the use of bespoke Orthotics placed into your footwear, to help redistribute pressure away from those joints and tissues under stress. Whatever your condition or sport we're able to provide an Orthotic that works for you.

We use various types of Orthotics depending on your needs, suitable to fit all types of footwear. Our standard prefabricated Orthotic solutions are heat moulded and adapted to the shape of your feet on the day, whereas our fully bespoke Orthotics are entirely custom made. To do that we use the data from our analysis to create a detailed prescription along with a cast of your feet, which is then sent to our laboratory to produce a pair of Orthotics tailored to your exact needs.

After a short adjustment period we will then review the performance of the Orthotics via a follow up appointment to ensure that your discomfort has reduced and performance increased. If necessary we can carry out any adjustments that may be needed.

Biomechanics & Gait Analysis: The Appointment

If you are a keen walker or runner buying your footwear from specialist running shops then you may have had a simple assessment performed in store, this is typically a video only approach to help the store assistant identify if you are pronated or supinated, in order to select a specific footwear style.

Our Biomechanics and Gait Analysis assessment involves 4 different core examinations, of which video plays only a single role. With the introduction of cutting edge foot pressure plate analysis and the OptoGait optical detection system we're able to provide biomechanical analysis to meet the needs of both enthusiasts and top level professional sports people alike.

Initial Clinical Observation

Our first stage is a critical part of the overall process, we'll determine your current complaint but importantly take a full history of any potentially related injuries, the level of activity performed and the intensity of pain you're experiencing.

A physical examination will assess your current joint range of motion and determine any abnormalities in your foot posture. A typical example would be over-pronation, whereby patients remain in this stage of the gait cycle for too long, the result being increased stress on other parts of the body.

Pressure Plate Analysis

Our state of the art pressure mat technology creates a dynamic 3D image of the maximal pressure areas in the feet when they are weight bearing, showing the centre of pressures and gait line. By simply standing and walking across the mat we can measure the static, dynamic and postural pressures and forces placed upon the feet. Using this analysis alongside our clinical observations we can detect leg length discrepancies whilst assessing the foot in motion.

OptoGait Optical Detection Analysis

The OptoGait optical detection system is the very latest breakthrough in advanced gait analysis. It is used by top athletes, Olympians and sports teams all over the World to assess their gait cycle, increase their rehabilitation times and improve sporting performance.

In a clinical environment we utilise this unique system to diagnose not only sporting concerns, but also in the treatment of a multitude of everyday pathological gait patterns. The very precise analysis this system provides allows us to detect, with an accuracy of 1 thousandth of a second, the contact and flight times of your normal gait cycle. The availability of this data enables us to treat some of the most complex of gait issues.

The OptoGait works in conjunction with our treadmill system and typically we'll ask you to walk at a normal pace whilst the OptoGait measures your gait cycle. There are a number of advanced analysis programmes available ranging from a standard walking pace to running speeds where required. It's also worth noting for those unable to use a treadmill we are still able to perform a large range of analysis using the OptoGait on the floor instead.

The core benefit of our OptoGait treatment is the ability to provide instant feedback. For example if after the initial assessment we feel that Orthotics may help to correct your problem, we can ask you to repeat the test again with these adjustments made. Immediately we're able to see the extent of the changes and can proceed with further modifications to your treatment plan where necessary. This breakthrough technology allows us to pair expert clinical observation with bespoke scientific analysis to provide unprecedented levels of treatment accuracy.

Post Assessment Video Analysis

Finally we utilise video recordings from two cameras to view your feet and lower legs from both the front and rear whilst using the treadmill. This allows us to playback in slow motion your entire gait cycle, enabling us to make precise observations about the position of your feet, lower limbs and upper body at various stages. Throughout this analysis we'll talk you through any asymmetries or abnormalities that may be occurring via our large screen patient feedback system.

A typical appointment will last around an hour, but we'd ask you to allow for up to an hour and half where necessary. Please attend in shorts or loose fitting trousers and bring your everyday footwear along with any specific sporting footwear and Orthotics should you already use them. Please do not attend in flip-flops or sandals as these are not appropriate for use on the treadmill or suitable for orthotics.

Biomechanics & Gait Analysis Assessment

Initial Clinical Observation

Pressure Plate Analysis

OptoGate Optical Detection Analysis

Post Assessment Video Analysis

Biomechanics & Gait Analysis: Book an Appointment

If you'd like to book a Biomechanics & Gait Analysis appointment with Walk Right Podiatry just get in touch. Our location on Drake Street in Rochdale means we're easily accessible from the whole of the Greater Manchester area. We can usually offer appointments within 24-48 hours and we'll always try to accommodate emergency appointments where possible.

©2007 - 2021 Walk Right Podiatry.

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Biomechanics, Gait Analysis & Orthotics - Walk Right Podiatry & Chiropody - Rochdale, Manchester, Oldham & Bury

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By studying your walking gait and the general movement of your body we're able to use advanced techniques to treat a large number of complex issues in the lower limbs. Biomechanics and Gait Analysis are the study of the body's function and movement and it's effect on the lower limbs.

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For interest - shows how orthotics are created. Watch minutes 3-5 for an ankle foot orthosis (AFO) being made

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Doctor Shadows an ORTHOTIST: Day in the Life

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in terms of descending pathways the second YouTube video uploaded was incredible at explaining the 2 pathways (corticospinal and corticonuclear tracts)
https://youtu.be/1s_dyfl0Xgs

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Descending motor pathways - corticospinal and corticonuclear tracts (upper motor neurons)

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Some of the most popular questions we are asked are highlighted below. If you would like to speak confidentially with one of our practitioners about any of this information or your own circumstances please contact your local clinic.

What is podiatry?

Podiatry is a branch of medicine devoted to the study, diagnosis and treatment of disorders of the foot and lower limb. Within the field of podiatry, practitioners can focus on many different specialty areas including surgery, sports medicine, biomechanics, geriatrics, paediatrics, diabetes and rheumatology.

What is the difference between a podiatrist and chiropodist?

Technically there is no difference between a podiatrist and a chiropodist. Podiatry is simply a more modern term adopted in the UK, along with many other countries, to reflect the advancements of treatment and regulatory changes within the profession.

There is, however, a perception that chiropody is the diagnosis and treatment of more general foot complaints, such as corns, verrucae and fungal infections, while podiatry is involved in more specialist areas such as biomechanics and surgery.

The most important thing when considering chiropodic/podiatric treatment is whether the practitioner is fully qualified and a State registered practitioner. Historically an individual may have had as few as six weeks training before being able to set up practice and call themselves a chiropodist or podiatrist. Now, as a minimum, they must undertake a three year university degree including practical training and be registered with the Health Professionals Council before they are permitting to use the terms podiatrist or chiropodist.

For those who do not meet these minimum criteria they must use another term with the most common being a Foot Health Practitioner. The use of either podiatrist or chiropodist or the adjectival form by a non-registrant is unlawful.

What is biomechanics?

In relation to podiatry biomechanics is the way in which the muscles, bones and joints of the feet and lower limb interact and move. Podiatrists look at functionality specifically in terms of impact absorption and propulsion.

The movements of the foot are defined as pronation and supination which are directly related to absorption and propulsion respectively.

Absorption and Pronation : This is the movement that occurs as the weight of the person moves from the outside of the heel to the inside of the forefoot. It is this movement which enables the foot and leg adapt to different surfaces and absorb the impact of placing the foot down. While a degree of pronation is required for walking and running too much, or not enough, pronation can cause strain and injury.

Propulsion and Supination : After absorbing the impact of placing the foot down supination commences. This is when the forefoot makes contact with the ground and pushes forward to leverage the heel off the ground moving the body weight to the front of the foot and toes. Supination is necessary to create the propulsion required for walking and running but too much, or not enough, pronation can decrease the ability of the foot to function normally and result in injury or pain.

Podiatry can assess the biomechanical function of the foot and lower limb and treat abnormalities and malfunction as part of a rehabilitation programme after sustaining an injury or via a preventative care strategy to avoid strain and injury.

Why do feet smell?

Smelly feet is usually the result of two factors: the interaction between perspiration and bacteria. Particularly when they are trapped within shoes. Feet have more sweat glands than any other part of the body but unlike other areas of the body they are often enclosed meaning perspiration cannot evaporate. Bacteria on the feet reacts to the perspiration by producing isovaleric acid and it is this which causes the odour.

Foot odour is very common to differing degrees and generally well ventilated shoes and regular washing is all that is needed to alleviate and cure the problem. If smelly feet is a more persistent problem you should visit a podiatrist for a professional diagnosis.

How long will recovery take?

Recovery is very unique to the individual. Not only does each person's condition differ but so too can the time it takes them to heal. Factors which may influence recovery time include:

Early diagnosis and treatment

The nature of the complaint or injury

How long you have had it and if it is a recurring problem

The severity of the damage

How much rest you are able to give the injury

The degree to which you adhere to the treatment and rehabilitation programme provided

Age, sex and genetics

Diet

We appreciate you have responsibilities and a life to live beyond your treatments and we will try to get you back on your feet as quickly as possible. We will also try to give you an estimated recovery time to help you plan while you may be incapacitated but we cannot guarantee how quickly your body will heal.

What happens in a first appointment?

During your first appointment we will undertake the Total Podiatry 360° assessment process to make a full evaluation of your situation. This will involve looking at the biomechanical function of your feet and lower limbs as well as your lifestyle, occupation, hereditary influences, body composition, medical history and even your psychological state.

With all this information we will make a clinical diagnosis and decide with you the best course of treatment and, when needed, rehabilitation programme.

How long is an appointment?

A first appointment is 30 minutes to allow us time to evaluate your condition before recommending and undertaking any form of treatment. Subsequent appointments are 30 minutes in duration.

How much does an appointment cost?

Routine chiropody - £45

Biomechanical analysis - £75

Please contact us for other prices and details for specialist treatments.

Do I need a referral from a doctor?

No. You can elect to see a podiatrist without a doctor's referral at any time.

If, however, you wish to be covered under the NHS you will need to firstly obtain a referral from your GP.

You should always contact your private health care provider to determine the correct procedure to ensure you are covered by your policy.

Can I use my private health insurance?

Yes, as long as you have approval from your provider. We are recognised by most major health insurers.

How often will I need an appointment?

The frequency of your appointments will be determined by the nature of the problem. For an injury it is common for several treatments to be needed initially and then repeat visits are determined by the speed of the healing process.

Some people, however, choose to make regular visits to their podiatrist as part of a preventive care programme every 6-12 weeks as way of maintaining fitness and performance and avoiding injury.

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FAQs - What is podiatry? What is biomechanics?

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Some of the most popular questions we are asked are highlighted below. If you would like to speak confidentially with one of our practitioners about any of this information or your own circumstances please contact your local clinic. Podiatry is a branch of medicine devoted to the study, diagnosis and treatment of disorders of the foot and lower limb.

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physiology - spinal and brain exam style equestions