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Most commonly injurie or trauma to the spinal. This is due to the spinal cord being a vital part of the body and damaging it is the lead cause of Paraplegia. Chronic conditions, such as tumours and stroke, can also cause this.

Damaging the spinal cord which is connected to the nerves throughout the body creates a disconnection between the nerves in the lower body and the spinal cord. This is the least cause of paraplegia .

There are rehabilitations techniques that are used such as yoga, water aerobics, weightlifting and seated aerobics

to compensate the paralysis, professionals had created a Re-walk personal exoskeleton that provides powered hip and knee motion to allow individuals to assist in mobility.

Relationships change when people get spinal cord injuries. As finances change and the person deals with how to do their everyday life in a new way. As well as learning new coping methods as it affects mental health not being able to do thing as they used to.

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1. What distinguishes MND from other neurological disorders such as ALS?

MNDs can be distinguished from other neurological disorders by the pattern of motor and/or sensory involvement. MND can be inherited or sporatic.

2. How do different types of MND vary in terms of symptoms and progression?

The different types of MND are determined by what parts of the body are affected, and how quickly the disease progresses. Each type is not a completely different disease, but a different form. You may be diagnosed with a type of MND based on how your symptoms originally present

3. What are the potential genetic and environmental risk factors for developing MND?

The potential genetic and environmental risk factors include exposure to environmental toxins and chemicals, infection by viral agents, immune-mediated damage, premature aging of motor neurons, loss of growth factors required to maintain motor neuron survival and genetic susceptibility.

4. What treatment options are available for MND, and how do they aim to manage symptoms?

Physiotherapy can help MND. In some cases, a medication called quinine can help treat muscle cramps too. They often improve later in the condition.

5. What breakthroughs in research are being made to better understand the causes and potential cures for MND?

There’s currently no cure for MND. But research is bringing hope for the future. Countdown to a cure showcases how research has given us a much better understanding of MND, is pointing towards new ways to treat the condition and is taking laboratory discoveries nearer to the development of treatments. This means there are more potential treatments on the horizon and being tested in clinical trials than ever before.

Association funding has been crucial to Project AMBRoSIA, which has built one of the world’s largest collections of samples from people with MND. This resource has facilitated research which led to the discovery of a biomarker for MND – neurofilament light chain (NfL) – that measures motor neurone damage. This can now be used in clinical trials to help determine if a drug is working.

An innovative approach now allows more potential treatments to be tested in a clinical trial at the same time. Known as platform trials, this approach means more people with MND have the opportunity to take part and have a higher chance of receiving the treatment instead of placebo. Association funding is supporting the growth of these platform trials.

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ALZHEIMER’S DISEASE

1. What are the early symptoms of Alzheimer’s disease and how do they progress over time?

early symptoms of Alzheimer's disease can be as simple as misplacing an item, having trouble thinking of a word you want to use, having poor judgement and becoming more hesitant to try new things

symptoms can also be as big as repeatedly asking the same question, forgetting a recent conversation, forgetting the name of an object or person, mood changes and anxiety.

over time, these symptoms progress into serious memory problems and the loss to perform everyday tasks such as being able to communicate or having no awareness of the space you're in.

2. How do amyloid plaques and tau tangles in the brain contribute to the development of Alzheimer's disease?

It is widely thought that these amyloid plaques contribute to the death of neurons in people with Alzheimer’s, either directly, or by causing another protein, called tau, to form toxic “neurofibrillary” tangles.

3. what role do genetic factors like the APOE gene, play in the risk of developing Alzheimer's disease?

having two copies of APOE is associated with a higher risk of developing Alzheimer's than having one coping.

4. What are the current treatment options for the disease, and how effective are they in slowing the disease’s progression?

Although there are currently no forms of treatment that prevent Alzheimer’s disease completely, there are medications that are able to improve the severity of symptoms whilst preventing the decline in bodily functions. Two of these medications include:

Cholinesterase inhibitors. These medicines work by boosting levels of cell-to-cell communication. The medicines preserve a chemical messenger that is depleted in the brain by Alzheimer's disease. These are usually the first medicines tried, and most people see modest improvements in symptoms.

Cholinesterase inhibitors may improve symptoms related to behaviour, such as agitation or depression. The medicines are taken orally or delivered through a patch on the skin. Commonly prescribed cholinesterase inhibitors include donepezil (Aricept, Adlarity), galantamine (Razadyne) and rivastigmine transdermal patch (Exelon).

The main side effects of these drugs include diarrhoea, nausea, loss of appetite and sleep disturbances. In people with certain heart disorders, serious side effects may include an irregular heartbeat.

Memantine (Namenda). This medicine works in another brain cell communication network and slows the progression of symptoms with moderate to severe Alzheimer's disease. It's sometimes used in combination with a cholinesterase inhibitor. Relatively rare side effects include dizziness and confusion.

5. What promising research is being conducted to find a cure or more effective treatments for the disease?

Disease-modifying treatment strategies for Alzheimer disease (AD) are still under extensive research. Nowadays, only symptomatic treatments exist for this disease, all trying to counterbalance the neurotransmitter disturbance. Recent therapies have integrated multiple new features such as novel biomarkers, new neuropsychological outcomes, enrolment of earlier populations in the course of the disease, and innovative trial designs. In the near future different specific agents for every patient might be used in a “precision medicine” context, where aberrant biomarkers accompanied with a particular pattern of neuropsychological and neuroimaging findings could determine a specific treatment regimen within a customized therapeutic framework.

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How does the immune system mistakenly target myelin in Multiple Sclerosis, and what are the consequences for nerve signal transmission?

In Multiple Sclerosis, the immune system becomes confused and attacks the protective myelin coating around nerves by mistake. If myelin is damaged, nerves can't communicate properly and may eventually die.

Multiple Sclerosis

1. What strategies can help manage the effect of MS on cognitive functions?

Multiple sclerosis can affect one’s ability in significant ways, but there are strategies which could aid in the management of MS’s symptoms, including:

1. Cognitive Rehabilitation: Targeted cognitive training programs can improve memory, attention, processing speed, and problem-solving skills.

2. Compensatory Strategies: Use tools like calendars, reminders, and memory aids to compensate for cognitive challenges.

3. Fatigue Management: Prioritise rest, exercise regularly, and maintain a healthy sleep schedule to reduce fatigue's impact on cognition.

4. Stress Reduction: Engage in stress-reducing activities like meditation, yoga, or deep breathing exercises.

5. Physical Exercise: Regular exercise improves cognitive function, overall health, and mental well-being.

6. Cognitive Stimulation: Engage in mentally stimulating activities, such as reading, puzzles, or learning a new skill.

7. Medication Management: Adhere to prescribed medications and discuss any concerns with your healthcare provider.

8. Lifestyle Modifications: Maintain a healthy diet, limit alcohol consumption, and avoid smoking.

2. What recent advancements in MS research are showing promise for more effective treatments or a potential cure?

Briumvi (Ublituximab) is a prescription medication approved by the US FDA in 2022 for the treatment of relapsing forms of Multiple Sclerosis (MS), which includes:

Relapsing-Remitting MS (RRMS)

Active Secondary Progressive MS (SPMS)

Briumvi is a monoclonal antibody which targets CD20-positive B cells responsible for the contribution to MS’s symptoms and activity administered via intravenous infusion to reduce the frequency of relapses, delay progression and manage symptoms. The medication has beeen shown to reduce annualised relapse rates, decrease disability progression, and decrease the number of M2 lesions present on MRI scans.

3. How do psychological factors, such as stress and depression impact the progression and management of MS?

Stress can trigger or worsen MS symptoms, such as fatigue, pain, and cognitive difficulties. Depression can worsen symptoms such as fatigue, quality of life, and impact treatment adherence.

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1) What are the different types of seizures associated with epilepsy, and how do they vary in presentation and severity?

There are three major groups of seizures:

Generalised Onset Seizures -

These seizures affect both sides of the brain or groups of cells on both sides of the brain at the same time. This term was used before and still includes seizure types like generalised tonic-clonic, absence, or atonic to name a few.

Focal Onset Seizures -

The term focal is used instead of partial to be more accurate when talking about where seizures begin. Focal seizures can start in one area or group of cells in one side of the brain.

Focal onset aware seizures: When a person is awake and aware during a seizure, it’s called a focal aware seizure. This used to be called a simple partial seizure.

Focal onset impaired awareness: When a person is confused or their awareness is affected in some way during a focal seizure, it’s called a focal impaired awareness seizure. This used to be called a complex partial seizure.

A focal seizure can also spread to both sides of the brain and become tonic-clonic (focal to bilateral tonic-clonic). People with this seizure type usually have an aura before the tonic-clonic seizure.

Unknown Onset Seizures -

When the beginning of a seizure is not known, it’s now called an unknown onset seizure. A seizure could also be called an unknown onset if it’s not witnessed or seen by anyone, for example when seizures happen at night or in a person who lives alone.

There are two major classes or groups of seizures: focal onset and generalized onset.

Focal onset seizures start in one area and can spread across the brain and cause mild or severe symptoms, depending on how the electrical discharges spread.

Generalized seizures can start as focal seizures that spread to both sides of the brain. They also can occur as “generalized onset” seizures in which seizure activity starts simultaneously over both sides of the brain. Generalized onset seizures usually start during childhood and are similar to a thermostat surge or a light flash — abnormal regulation between parts of the brain causes the seizures.

2) How do neurological abnormalities contribute to the development of epilepsy?

Problems in the brain's wiring, an imbalance of nerve signaling in the brain wherein some cells are unusually active or stop other brain cells from sending messages, or a few combination of these factors may develop epilepsy. EDIT

Impaired regulation of the activation and resolution of inflammatory cells and molecules in the injured neuronal tissue is a critical factor to the development of epilepsy. Nonetheless, it is still unclear as to how the imbalance regulation of inflammation contributes to epilepsy. EDIT

3) What are the challenges in diagnosing epilepsy, particularly in distinguishing it from other neurological conditions?

It can be hard to diagnose epilepsy quickly as epilepsy is associated with difficulty and communicating can be seen as learning disabilities. Physical symptoms such as fainting, migraines and panic attacks are like other diseases and it can't be confidently picked up on without diagnosis unless there is more than 1 seizure.

4) How do anti-epileptic drugs work to control seizures, and what are the potential side effects?

Deep brain stimulation is a new treatment for epilepsy. The device records a patient's brain signals from the thalamus, which is used to help adjust the device by determining how often to send the pulses. Bursts of electricity sent along the wires can help prevent seizures by changing the electrical signals in the brain. DBS is a new procedure that's not used very often, so it's not yet clear how effective it is for epilepsy.

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Huntington's disease

1. Early signs of the disease include amnesia, mood swings, minor involuntary movements, clumsiness, trouble making decisions and trouble learning new things. Over time, these symptoms heighten in severity, small involuntary movements become jerky movements known as ‘chorea’, and people with the disease may have difficulties with simple tasks such as speech, swallowing, and concentration (BetterHealth Channel, 2022). In terms of psychological impact, cognitive decline is one of the main factors of the disease and in some cases may be present before the onset of motor disturbances (Anitha. A, 2023).

2. Talk about how genetic mutation in the HTT gene leads to huntington’s disease.

3. Motor symptoms associated with Hungtington’s disease are chorea which is causes movements that can’t be controlled. The involuntary movement affects muscles of the body, specifically the arms, legs, face, and tongue. Cognitive abilities associated with the disease would be having trouble prioritizing, organizing, or focusing on tasks.   Huntington's disease - Symptoms and causes - Mayo Clinic

4.

5. There are currently active programs using antisense oligonucleotides (ASOs), RNA interference, small-molecule splicing modulators, and zinc-finger protein transcription factor. Except for ASOs and RNA interference approaches, the remaining therapeutic strategies are at a preclinical stage of development. Ribonucleic acid (RNA) is a molecule present in most living organisms and viruses. It is made up of nucleotides, which are ribose sugars attached to nitrogenous bases and phosphate groups. The nitrogenous bases include adenine, guanine, uracil, and cytosine. An antisense oligonucleotide (ASO) is a short single-stranded deoxyribonucleotide complementary to the sense strand of a selected nucleic acid. As a result, an ASO can modulate gene expression through several mechanisms.

6. In the context of predictive testing for HD (Huntington’s disease), the questions are whether it is ethical to provide individuals with information about their future health when no treatment for the condition is available, what the beneficence, non-maleficence and justice issues are, and if the service is offered, how it should be conducted.

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Overview

Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a wide impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

Huntington's disease symptoms can develop at any time, but they often first appear when people are in their 30s or 40s. If the condition develops before age 20, it's called juvenile Huntington's disease. When Huntington's develops early, symptoms are somewhat different and the disease may progress faster.

Medications are available to help manage the symptoms of Huntington's disease. But treatments can't prevent the physical, mental and behavioral decline associated with the condition.

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Symptoms

Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly from person to person. Some symptoms appear more dominant or have a greater effect on functional ability, but that can change throughout the course of the disease.

Movement disorders

The movement disorders associated with Huntington's disease can include both involuntary movement problems and impairments in voluntary movements, such as:

Involuntary jerking or writhing movements (chorea)

Muscle problems, such as rigidity or muscle contracture (dystonia)

Slow or unusual eye movements

Impaired gait, posture and balance

Difficulty with speech or swallowing

Impairments in voluntary movements - rather than involuntary movements - may have a greater impact on a person's ability to work, perform daily activities, communicate and remain independent.

Cognitive disorders

Cognitive impairments often associated with Huntington's disease include:

Difficulty organizing, prioritizing or focusing on tasks

Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)

Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity

Lack of awareness of one's own behaviors and abilities

Slowness in processing thoughts or ''finding'' words

Difficulty in learning new information

Psychiatric disorders

The most common psychiatric disorder associated with Huntington's disease is depression. This isn't simply a reaction to receiving a diagnosis of Huntington's disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:

Feelings of irritability, sadness or apathy

Social withdrawal

Insomnia

Fatigue and loss of energy

Frequent thoughts of death, dying or suicide

Other common psychiatric disorders include:

Obsessive-compulsive disorder, a condition marked by recurrent, intrusive thoughts and repetitive behaviors

Mania, which can cause elevated mood, overactivity, impulsive behavior and inflated self-esteem

Bipolar disorder, a condition with alternating episodes of depression and mania

In addition to the above disorders, weight loss is common in people with Huntington's disease, especially as the disease progresses.

Symptoms of juvenile Huntington's disease

The start and progression of Huntington's disease in younger people may be slightly different from that in adults. Problems that often present early in the course of the disease include:

Behavioral changes

Difficulty paying attention

Rapid, significant drop in overall school performance

Behavioral problems

Physical changes

Contracted and rigid muscles that affect gait (especially in young children)

Tremors or slight involuntary movements

Frequent falls or clumsiness

Seizures

When to see a doctor

See your health care provider if you notice changes in your movements, emotional state or mental ability. The signs and symptoms of Huntington's disease can be caused by a number of different conditions. Therefore, it's important to get a prompt, thorough diagnosis.

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Causes

Huntington's disease is caused by an inherited difference in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the nontypical gene to develop the disorder.

With the exception of genes on the sex chromosomes, a person inherits two copies of every gene - one copy from each parent. A parent with a nontypical gene could pass along the nontypical copy of the gene or the healthy copy. Each child in the family, therefore, has a 50% chance of inheriting the gene that causes the genetic disorder.

Complications

After Huntington's disease starts, a person's functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from the first symptoms to death is often about 10 to 30 years. Juvenile Huntington's disease usually results in death within 10 years after symptoms develop.

The clinical depression associated with Huntington's disease may increase the risk of suicide. Some research suggests that the greatest risk of suicide occurs before a diagnosis is made and in the middle stages of the disease when a person starts to lose independence.

Eventually, a person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, the person will likely be confined to a bed and unable to speak. Someone with Huntington's disease is generally able to understand language and has an awareness of family and friends, though some won't recognize family members.

Common causes of death include:

Pneumonia or other infections

Injuries related to falls

Complications related to the inability to swallow

Prevention

People with a known family history of Huntington's disease are understandably concerned about whether they may pass the Huntington gene on to their children. These people may consider genetic testing and family planning options.

If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor will discuss the potential risks of a positive test result, which would indicate that the parent will develop the disease. Also, couples will need to make additional choices about whether to have children or to consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.

Another option for couples is in vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father's sperm in a laboratory. The embryos are tested for presence of the Huntington gene, and only those testing negative for the Huntington gene are implanted in the mother's uterus.

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Huntington's disease - Symptoms and causes

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This condition causes a progressive breakdown of nerve cells in the brain. Find out about what signs to watch for and how treatments may help.