# data[].attributes.body
-A genetic condition causing intellectual disability.
-Neither dominant or recessive due to the fact that it does not follow the usual X-linked dominant inheritance.
-Characteristics are Aggression, learning disability, delays in talking and prominent jaw and forehead.

# data[].attributes.attachment_link.description
A secondary school revision resource for AQA GCSE Additional Science about cell division and inheritance

# data[].attributes.body
-Inherited life threatening diseases that damages the lungs and digestive system
-Recessive disease
-Characteristics are pain in the abdomen, lung infection, and inability to gain weight.

# data[].attributes.body
-A rare inherited disorder that destroys nerve cells in the brain and spinal cord.
-Recessive genetic disorder
-Characteristics are muscle weakness, problems with coordination, difficulty swallowing and seizures.

# data[].attributes.body
-A disorder where blood doesn't clot normally.
-Sex-linked recessive disorder
-Characteristics are pain in the joints, internal bleeding, swollen joints and deep bruises

# data[].attributes.attachment_link.description
MedlinePlus Genetics provides information about the effects of genetic variation on human health. Learn about genetic conditions, genes, chromosomes, and more.

# data[].attributes.attachment_link.title
Pedigrees and Karyotypes - ppt video online download

# data[].attributes.attachment_link.description
Pedigree A pedigree shows the relationships within a family and it helps to chart how one gene can be passed on from generation to generation. Pedigrees are tools used by genetic researchers or counselors to identify a genetic condition running through a family, they aid in making a diagnosis, and aid in determining who in the family is at risk for genetic conditions.

# data[].attributes.body
-A birth defect that causes an amino acid  that is called phenylalanine to build up in the body.
--Recessive disease
-Characteristics are delayed development, short stature, slow growth, and slowness in activity.

# data[].attributes.attachment_link.title
Top 41 on phenylketonuria symptoms in adults - HealthTap

# data[].attributes.attachment_link.description
Phenylketonuria symptoms in adults - What are the common symptoms of phenylketonuria? Intellec. Disability. Phenylketonuria (aka pku) is an inherited disorder that increases the levels of a phenylalanine (pa) in the blood. Pa is an amino acid, that is obtained through the diet.

# data[].attributes.attachment_link.keywords[]
genetic pedigrees genetic pedigrees are like family trees

# data[].attributes.attachment_link.title
Genetic Pedigrees Genetic pedigrees are like family trees - ppt video online download

# data[].attributes.attachment_link.description
Creating a Pedigree H h H h hh H ? H ? Key H = Healthy h = PKU H h H h hh H ? H ? 1) Manny and Rosa are married and both are healthy. 2) They have 3 children. 3) Their oldest child, Jacob, has a recessive disorder called PKU.

# data[].attributes.body
-Recessive disease
-Characteristics- pain in the joints, low oxygen in the blood, and sudden pain in the chest
-Two genes for the sickle hemoglobin must be inheredited from one parent

# data[].attributes.attachment_link.readable_text
What Is Sickle Cell Disease?

Sickle cell disease is a condition in which red blood cells are not shaped as they should be. Red blood cells look like round discs. But in sickle cell disease, they're shaped like sickles, or crescent moons, instead.

These sickle shaped cells get stuck together and block small blood vessels. This stops blood from moving as it should, which can lead to pain and organ damage.

What Are the Signs & Symptoms of Sickle Cell Disease?

People with sickle cell disease can have pain crises. In a pain crisis:

Pain may happen in any part of the body.

Cold, stress, or dehydration can bring on pain.

The pain may last a few hours, a few days, or sometimes longer.

Sometimes pain can be managed at home. But someone with severe pain might need treatment in a hospital.

People with sickle cell disease often have a low number of red blood cells, or anemia. Signs of anemia include:

paleness, often seen in the skin, lips, or nailbeds

tiredness

dizziness

being short of breath

feeling lightheaded

being irritable

trouble paying attention

a fast heartbeat

People with sickle cell anemia may have

jaundice . This happens because the sickle-shaped red blood cells break down faster than normal cells. Jaundice can make the skin and whites of the eyes look yellow.

What Problems Can Happen?

People with sickle cell disease can have problems that need immediate care by a doctor, such as:

Acute chest syndrome: Caused by inflammation, infection, and blockages of small blood vessels of the lung. Signs include chest pain, coughing, trouble breathing, and fever.

Aplastic crisis: This is when the body temporarily does not make enough red blood cells, and can cause severe anemia. Signs include paleness, extreme tiredness, and a fast heartbeat.

Hand-foot syndrome: This painful swelling of the fingers and toes (also called dactylitis ) is the first sign of sickle cell anemia in some infants.

Infection: Kids with sickle cell disease are a risk for some bacterial infections. It's important to watch for fevers of 101°F (38°C) or higher, which can be signs of an infection.

Priapism: Males with sickle cell disease can have painful, lasting erections. If it's not treated quickly, damage can cause problems with getting erections later on.

Splenic sequestration crises: The spleen traps the abnormal red blood cells and gets very large. This can lead to a serious, quick drop in the number of red blood cells in the bloodstream. Signs include paleness, weakness or extreme tiredness, an enlarged spleen, and pain in the belly.

Stroke: Sickle-shaped cells can block small blood vessels in the brain, causing a stroke. Signs include headache, seizures, weakness in the arms and legs, speech problems, a facial droop, or loss of consciousness.

People with sickle cell disease are also at risk for problems such as leg ulcers, bone or joint damage, gallstones, kidney damage, eye damage, and delayed growth.

What Causes Sickle Cell Disease?

Sickle cell disease is a genetic condition. People who have it inherited certain hemoglobin genes from their parents. Hemoglobin is the protein inside of red blood cells that carries oxygen. Abnormal hemoglobin makes the red blood cells sickle shaped.

Someone who inherits a sickle cell gene from each parent has sickle cell disease.

Someone who inherits a sickle cell gene from one parent and a normal hemoglobin gene from the other has sickle cell trait rather than sickle cell disease. Most people with sickle cell trait don't have symptoms, but can pass the gene to their children.

Someone who inherits a sickle cell gene from one parent and a different kind of abnormal gene from the other parent may have a different form of sickle cell disease, such as hemoglobin SC disease or sickle beta thalassemia.

How Is Sickle Cell Disease Diagnosed?

Sickle cell disease is often found at birth with a blood test during routine newborn screening tests. A second blood test (called a hemoglobin electrophoresis) will confirm the diagnosis.

Sickle cell disease also might be diagnosed before a baby is born with a test on the amniotic fluid or with a sample of tissue from the placenta.

How Is Sickle Cell Disease Treated?

Stem cell transplant (also called bone marrow transplant) is the only known cure for sickle cell disease. Transplants are complex and risky, and for now are an option only for some patients.

Scientists are studying gene therapy for sickle cell anemia. One day, it's hoped that doctors can stop the disease by changing or replacing the abnormal gene that causes it.

But even without a cure, kids with sickle cell disease can lead fairly normal lives if they follow their treatment plan. It might involve:

Immunizations and daily doses of penicillin (an antibiotic) can help prevent infection. Kids with sickle cell disease should get all recommended vaccinations, including the pneumococcal, flu, and meningococcal vaccines.

Kids with sickle cell disease may take folic acid supplements to help them make new red blood cells.

Hydroxyurea is a medicine that makes the cells less sticky. This helps decrease the frequency and intensity of painful episodes and other complications. Hydroxyurea is taken every day.

L-glutamine is another medicine. It's used if hydroxyurea isn't working well or someone still has pain crises even with hydroxyurea.

When pain does happen, medicines are available to help manage it.

Sometimes, blood transfusions are done for severe anemia or some complications.

When Should I Call the Doctor?

Get emergency medical care right away if your child has any of these problems:

fever of 101°F (38°C) or higher

pain that isn't getting better with medicine

chest pain

severe headaches or dizziness

severe stomach pain or swelling

shortness of breath or trouble breathing

extreme tiredness

skin is yellow or very pale

an erection that is not going away or is painful

sudden change in vision

weakness or inability to move part of the body

slurred speech

loss of consciousness

numbness or tingling

How Can I Help My Child?

To help your child take control of sickle cell disease:

Stay on top of all appointments and medicines.

Follow up with any recommended specialists to watch for complications.

Help your child avoid pain crisis triggers, such as extreme temperatures or stress.

Talk to the doctor about which activities are OK for your child and which to avoid.

Teach your child not to smoke, drink alcohol, or use drugs because these can cause pain and other problems.

Encourage your child to drink lots of fluid and get enough rest.

Share any concerns or new symptoms with your child's doctor.

# data[].attributes.attachment_link.description
Sickle cell disease is a condition in which red blood cells are not shaped as they should be. Red blood cells look like round discs. But in sickle cell disease, they're shaped like sickles, or crescent moons, instead. These sickle shaped cells get stuck together and block small blood vessels.

# data[].attributes.attachment_link.description
Late onset Huntington's disease is an autosomal dominant genetic disorder that affects the central nervous system of human beings. This disease typically shows up when a person reaches their mid...

# data[].attributes.body
-A progressive brain disorder
-This is an dominant disease. Only one parent needs to have the disease for the child to get it.
-Characteristics of individuals having the disease is Slow or abnormal movement, Muscle problems, and involuntary jerking.

# data[].attributes.attachment_link.readable_text
Huntington disease is an inherited disease that causes the progressive deterioration or degeneration of nerve cells in the brain. Huntington's disease has a large impact on an individual's ability to functions including movement, cognitive ability and psychiatric disorder.
As the disease advances, jerky, uncoordinated, body movements grow more obvious.Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities often decline into dementia. The specific symptoms vary somewhat between people

The majority of people with Huntington in disease develop signs and symptoms in their 30s or 40s, yet have the onset of the disease later or earlier in life. There are cases when the onset happens before the age of 20, causing what is considered juvenile Huntington's disease. Earlier the onset of the disease the will tend to result in a different set of symptoms and faster disease progression.

Some medications are available to help manage the symptoms of Huntington's disease, but treatment can not stop the physical, mental and behavioral decline that is the outcome of this disease.
Huntington Disease Symptoms
Huntington is disease will usually cause cognitive, psychiatric and movement disorders. There is a wide range of signs and symptoms. Such symptoms appear fist varies significantly among those who are affected. During the stages of the disease, some disorders seem to dominate more or have a greater significant effect on functional ability.
Movement Disorders

The movement disorders linked with Huntington's disease can involve both involuntary movements and impairments in voluntary movements.

Involuntary jilting or writhing movements (chorea)

Issues with muscle, rigidity muscles, problems with contracture dystonia.

Slow or abnormal eye movements

Difficulty speaking or swallowing

Impaired gait, posture, and balance.

Research has shown that substance abuse has a strong effect on the age of onset of motor symptoms in Huntington disease.
Patients who abused tobacco, alcohol, and drugs encountered the onset of motor symptoms several years earlier than patients who did not. The effect of substance abuse was very strong in women.

Out of a sample group of 4,1146 participants with Huntington's disease, 2314 ha motor-skill affected by Huntington's disease. After eliminating patients with an unreported age on onset of motor symptoms, patients with onset at 21 or younger, patients who did not fit any substance abuse category and patients with a diagnosis confidence of zero 1849 participants were evaluated. Whereas 466 abused tobacco, 374 abused alcohol, and 217 abused drugs and 692 did not abuse any substances.
Patines who abused tobacco had an early onset of symptoms 2.3 earlier, patines who abused alcohol one year earlier and patients who abused drugs 3.3 years earlier
Cognitive disorders
Cognitive impairments often linked to Huntington's disease include;
challenge organizing, focusing and prioritizing task.

Lack of flexibility or prone to getting stuck on thoughts behavior or actions(preservation)

Lack of awareness of one's behavior or abilities

Difficulty learning new things

Slowness to process thought or words to communicate

Lake of impulse control, having an outburst or acting without thinking secual

promiscuity.

Psychiatric disorders
The are common psychiatric disorders associated with Huntington's disease is depression.This is not simply a reaching to the diagnoses of Huntington's disease. Instead, depression appears to occur because of injury to the brain or subsequent changes in brain function. Signs and symptoms may include the following:

Feeling or irritability sadness or apathy

Insomnia

Social withdrawal

Fatigue and loss of energy

Frequent thoughts of dying or death.

There are common psychiatric disorders including:
Obsessive-compulsive disorder, a condition characterized by recurrent, and intrusive thoughts and repetitive behaviors.
Mania - This is triggered by elevated mood, over-activity impulsive behavior, and inflated self-esteem.
Bipolar disorder, alternate episodes of mania and depression.

Symptoms of juvenile Huntington's disease
The onset and progression of Huntington disease in younger people may be slightly different from that of adults. Challenges that often present themselves early in the course of the disease include:

Behavioral changes

Loss or previous learned academic or physical skills

Behavioral problems

Rapid, a significant drop in overall school performance.

Physical changes
Contracted and rigid muscles that affect gait (especially in young children)
Tremor or slight involuntary movements
Seizures
Changes in the motor skills that might be noticeable in skills such as handwriting

You should see a doctor when you notice changes in your movements or emotional state or mental ability. The signs and symptoms of Huntington disease can be caused by a number or current conditions.

Causes of Huntington's disease

Huntington's disease is created by an inherited defect in a single gene. Huntington's disease is an autosomal dominant disorder, which indicates that a person requires only one copy of the defective gene to produce the disorder.

Except for genes on sex chromosomes, a person will inherit two copies of every gene, one copy from each parent. A parent with a defective Huntington gene can pass along a defective copy to or a health copy. HD is mostly inherited from a person's parents, with 10% of cases caused by a new mutation. The disease is triggered by an autosomal dominant mutation in either of a person's two copies of a gene referred to as Huntingtin Each child in the family has a 50% percent chance of inheriting the gene that causes the genetic disorder. The Huntingtin gene stores the genetic information for a protein that is also also called "huntingtin".

Expansion of CAG (cytosine-adenine-guanine) triplet recurs in the gene coding for the Huntingtin protein which results in an abnormal protein, which gradually destroys cells in the brain, through mechanisms that are not fully recognized
Complications of Huntington's Disease
After the onset of Huntington;'s disease, a person's functional ability will slowly worsen over time. The rate of disease progression and duration will vary. The time from disease onset to death is normally 10 to 30 years. Juvenile onset usually results in death within ten years.

The clinical depression associated with Huntington disease may increase the risk of suicide. Some research suggests that the risk is higher for suicide broke a diagnose is made and in the middle stages of the disease when an individual begins to lose their independence.

Over time, a person with Huntington's disease needs help with all activities of daily living and care. Later in the disease, he or she will likely be considered to the bed and unable to communicate. However, he or she will likely be able to understand language and has an awareness of the family and friends.

Common causes of death include
Complications related to the inability to swallow.
Injuries related to falls
Pneumonia or other infections.
Test and Diagnosis of Huntington's disease.
A diagnosis of Huntington's disease is based on answering several questions, general physical examination, review of family medical history, and neurological and psychiatric exams.

Neurological examination
The neurologist will ask you a series of question, simple test in the office can be used to evaluate:
Sensory symptoms Psychiatric symptoms
Neuropsychological testing
The neurologists may also perform test to assess the following

Memory

Reasoning

Language function

Spatial reasoning

Mental agility

Psychiatric evaluation
You will be referred to psychiatry to examine and evaluate the number of factors that could contribute to the diagnosis.

Patterns of behavior

Coping skills

Evidence of substance abuse

Signs of disordered thinking

Emotional state

Brian imaging and function
Your doctor may order a brain-imaging test for assessing the structure or function of the brain. The imaging technologies may include an MRI; which can produce detailed cross-sectional and 3-D images of the brain or CT scan
These images may reveal structural schemas at particular sites in the brain affected by Huntington disease however these changes may not be apparent early in the course of the disease. The test can also be used to rule out other conditions that may be causing symptoms.
Genetic counseling and testing
If symptoms strongly suggest an analysis of Huntington's disease, your doctor may recommend a genetic evaluation for the detective genetics. This test can confirm the diagnosis, and it may is important if there's no observed family history of Huntington's disease or if no other family member's diagnosis was established with a genetic test

The test will not provide information that is beneficial in determining a treatment plan.

Before you have a test, the genetic console may explain the benefits and drawbacks of learning the test results. The genetic counselor can answer any question about the inheritance patterns of Huntington's disease.

Predictive genetic test
A genetic test can be given to an individual who has a family history of the disease but the show, not signs or symptoms. This is referred to as predictive testing. The test result has not retreatment benefit; it does not indicate when disease onset will begin or what symptoms are most likely to appear first.

Some people may elect to do the because they find it more stressful not knowing. Ther may want to take the test before they make decisions about having children.
The risk may induce problems with insurability or future employment and the stress of facing a fatal disease. This test is the only period of consultation with a genetic counselor

Medication for Huntington Disease

There are no treatments that can change the course of Huntington's disease. However he medication can lessen some symptoms of movement and psychiatric disorders. Ther are multiple interventions can help a person adapt to changes his or her abilities for a certain amount of time.

Medication management is needed, and will evolve over time over the course of the disease, depending on the overall treatment goals. Alos drugs o treat some symptoms that may result in side effects that worsen other symptoms.
Treatment goals and plans will need to be reviewed and updated.
Medication for movement disorders Drugs to treat movement disorders include the following:
Tetrabenazine (Xenazine) this drug is approved by the Food and Drug Administration to suppress the involuntary jerking and writhing movements called chorea linked with Hunton;s diseases, A serious die effect is a risk of worsening triggering depression of other psychiatric conditions.

Antipsychotic drugs, such as haloperidol (HaldorL) and chlorpromazine, have a side effect of controlling movements. Accordingly, they may be beneficial in treating chorea. These drugs may prevent involuntary contractions (dystonia) and muscle rigidity.
Newer drugs such as riper Dio dnd *Risperdal) and quetiapine (Seroquel) can have fewer side effects but still should be handled with caution, and they may worsen symptoms.

Other medications that may help suppress chorea include amantadine, levetiracetam (Keppra) and clonazepam (Klonopin) At high dose, Amantadine can exacerbate the cognitive effects of Huntington's disease. It can also produce skin discoloration and leg swelling
Side effects of levetiracetam include mood swings, nausea, and upset stomach. Clonazepam may worsen the cognitive side effects of Huntington's disease and cause drowsiness. It also has a high risk of dependency and abuse,
Medications for psychiatric disorders
Medications to treat psychiatric disorder will vary depending on the disorders and symptoms. Possible treatments include the following.
Antidepressants include medications such as Celexa Lexapro) fluoxetine (Prozac, Sarafem) and sertraline(Zoloft). These drugs may also have some effect on managing the obsessive-compulsive disorder. Side effects can include nausea, diarrhea, drowsiness and low blood pressure
Antipsychotic drugs - such as quetiapine (Seroquel) risperidone (Risperdal) and olanzapine (Zyprexa) - may subdue violent out its agitation, and other symptoms of mood disorder or psychosis. However, these drugs may cause different movement disorders themselves.
Mood stabling drugs that can help counteract the highs and lows associated with bipolar disorder involve anticonvulsants, such as carbamazepine (Carbatrol, Epitol, Equetro) valproate (Depacon) and lamotrigine ( Lamictal) General side effects include weight gain, tremor, and gastrointestinal problems.

Psychotherapy - A psychotherapist - a psychiatrist, psychologist or clinical social worker - can present talk therapy to help a person control behavioral problems, develop coping strategies, manage expectations during the progression of the disease and frailty effective communication among family members.
Speech therapy
Huntington;s disease can dramatically diminish control of muscles of the mouth and throat that are necessary for speech, eating and swallowing. A speech therapist can help enhance your ability to speak effectively or teach you to use communication devices- such as a board covered with pictures of everyday items and activities. A speech therapist can also address difficult with muscles used in eating and swallowing.
Physical therapy
A physical therapist can teach you some safe exercises that are appropriate that enhance strength, balance, flexibility and coordination. This exercise can help sustain mobility as long as possible and may reduce the risk of falls.
Instruction on appropriate position and the use of supports to improve posture may help reduce the severity of some mobility problems.
When the use of a walker or wheelchair is needed, the physical therapist can provide instruction on appropriate use of the device and posture. Also, exercise regimens can be adapted to suit the new level of mobility.
Occupation therapy
An occupational therapist can help the person with Huntington;s disease, family members and caregivers on the usage of the assistive device that improves functional abilities. The strategies may include

Handrails at home
Assistive devices of activities such as bathing and dressing
Eating and drinking utensils for people with limited fine motor skills.

Posted in Tagged Huntington's Disease (HD) huntingtin, Huntington's Disease (HD)

# data[].attributes.attachment_link.description
Huntington disease is an inherited disease that causes the progressive deterioration or degeneration of nerve cells in the brain. Huntington's disease has a large impact on an individual's ability to functions including movement, cognitive ability and psychiatric disorder.