Huntington’s Disease is a progressive brain disorder that causes involuntary jerking movements (chorea). It usually begins in the thirties or forties, although it can occur in childhood or adolescence. It progresses rapidly, affecting thinking and school performance.
A thorough neurological exam and family history are the best way to determine if someone has the disease. Drugs like haloperidol and tetrabenazine are helpful in controlling the movement disorders.
Symptoms
Huntington’s disease is a genetic condition that causes a buildup of abnormal proteins that gradually destroys neurons (brain cells) in certain parts of the brain. This leads to changes in movement, thinking and mood. Huntington’s disease usually begins in a person’s thirties or forties, but it can appear much earlier or later. It can also vary among families. It’s sometimes called adult-onset HD.
Symptoms can range from uncontrolled movements to problems with thinking and memory. They may get worse over time and have a major effect on a person’s ability to function. Involuntary movements (chorea) are the hallmark symptom of Huntington’s disease, but many people with the condition also have other motor symptoms such as uncontrolled jerking or twitching in the arms, legs, head and face. They can also have trouble with speech, swallowing and a change in personality and mental functioning.
Medications can help control symptoms such as depression and irritability. Some are also used to treat the jerking movements (dystonia) caused by Huntington’s disease. There is no cure for Huntington’s disease, but there are treatments that can improve a person’s quality of life. These include therapy, medicines to reduce chorea and physical and occupational therapies to help with everyday tasks.
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A doctor can diagnose Huntington’s disease by asking a person about their family history of the condition and performing a physical exam. A blood test can show whether a person has a specific change in their gene that causes the disorder. A genetic counselor can explain the results of the test and answer any questions.
If a person has a family history of Huntington’s disease, they should talk to their doctor about getting a genetic test for the mutation before they start having symptoms. This can help them know if they are at risk of developing the disorder and make plans for future pregnancies. They can also ask their GP to refer them to a specialist for further tests. Pre-implantation genetic testing is available for couples who are planning a pregnancy. This can determine if one or both partners carry the gene mutation for the disorder and provide them with the information they need to decide whether to go ahead with the pregnancy.
Diagnosis
People with Huntington’s disease develop involuntary jerking movements, loss of balance and coordination, trouble swallowing, changes in their thinking ability (dementia), and mood problems like irritability and depression. These symptoms worsen over time. They can lead to work and family challenges, and make it difficult to live independently.
Researchers haven’t found a way to cure Huntington’s, but medications can ease some of the movement and cognitive symptoms. People with Huntington’s often need help with daily activities, such as bathing, eating and grooming. They may also need assistance with walking and balancing. Some people also have trouble with speech and swallowing. Other symptoms can include a slurred or garbled speech, difficulty thinking clearly and concentrating, memory impairment, and personality changes.
Doctors diagnose Huntington’s disease based on the person’s symptoms and their family history. They may refer the person to a specialist for a brain-imaging test, such as a magnetic resonance imaging (MRI) or computed tomography (CT) scan. The tests show the structures and function of the brain.
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The mutation in the gene that codes for huntingtin causes Huntington’s disease. This mutation creates an abnormally long stretch of repeated cytosine, adenine and guanine (CAG) bases in the protein. It leads to clumping of proteins within neurons and their death. The longer the CAG repeats are in the gene, the sooner the symptoms will start.
In 90 percent of cases, Huntington’s disease starts between ages 30 and 50. But it can start in people as young as 20. The symptoms progress slowly, but they become more severe over time.
Genetic counseling is offered for people with a family history of Huntington’s disease. It explains how the disease runs in families, and it helps people decide whether or not to have children. Those who choose to have children can undergo in-vitro fertilization to ensure their fetus doesn’t have the gene mutation. They can also undergo testing during pregnancy, either through amniocentesis at 14-18 weeks or tissue sample from the placenta at 10-11 weeks. These tests can only confirm if the person has Huntington’s disease, but they cannot predict when symptoms will start or how severe they’ll be.
Treatment
Huntington’s disease is caused by a change (mutation) in a gene called huntingtin. The mutation causes the protein to grow in an abnormal shape, which eventually destroys neurons in your brain. The neurons die in the basal ganglia and brain cortex, which control movement and thinking. The disorder gets worse over time. It’s a genetic disease, so it runs in families. Children of parents who have the mutation have a 50% chance of developing it themselves. It’s also possible to develop the disease without a family history, which is known as sporadic Huntington’s disease.
A doctor diagnoses the disease based on your symptoms, a physical exam and your medical and family history. Tests can include an eye examination to check for signs of the disease, a CT or MRI scan to look for changes in the brain, and a psychological exam to evaluate your mood and mental status.
Treatment for the early stages of Huntington’s disease focuses on managing your symptoms. Antidepressants can help with depression and sedatives can calm agitation or aggression. If you have a movement disorder, you can try exercise or occupational therapy to maintain your strength and balance. If your speech or swallowing problems get worse, you can work with a speech therapist to improve your ability to speak clearly and eat. A physiotherapist can teach you exercises that improve movement, balance and posture, and a dietician can help with food preparation and dietary needs.
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As the disease progresses, your symptoms may get worse and you’ll need more care. You might be able to use an advance directive to explain your wishes about how you’d like to be cared for in the future. You might need help getting around or you might need a feeding tube to receive nutrition directly into your stomach. You may need a nurse or home health aide to help you bathe, dress and toilet yourself.
Researchers are investigating ways to slow down or stop the progression of Huntington’s disease. One approach is to reduce the amount of mutant huntingtin protein. Another is to replace the damaged proteins. Trials of these approaches are ongoing.
Prevention
There is no cure for Huntington’s Disease, but there are medications that can help relieve some of the symptoms. People with the condition can benefit from physical and occupational therapy to help them maintain their ability to move around, get dressed and perform daily activities. They can also use speech, swallow and cognitive therapies to help them continue functioning as long as possible. It’s important for people with the condition to try to stay as healthy as possible, especially with diet and exercise. They can also participate in research trials to try new treatments that may slow the progression of the disease.
The disease is caused by a mutation (change) in one gene on chromosome 4. Each child of a parent who has the mutant gene has a 50 percent chance of inheriting it and developing HD. But in 1 to 3 percent of cases, a person develops the disease without a family history. This is called sporadic Huntington’s Disease.
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When a person has the disease, the mutated gene causes cells in the brain to break down. These cells are responsible for controlling your movement and making decisions. When the cells die, you start to have a variety of symptoms, including unsteady feet, clumsiness and problems with thinking and decision-making.
As the disease progresses, symptoms get worse and a person’s need for care and support increases. People with the condition will eventually need to live in a nursing home and may have to use a wheelchair or other mobility devices. They can also suffer from other complications, such as infections or falls that cause injuries. The average life expectancy after diagnosis is about 20 years.
There is no way to prevent the onset of Huntington’s Disease, but doctors are studying ways to treat it. As a result, they are hopeful that treatment options will be available in the future. Forbes and Younes said that predictive testing for the mutation might become common, so that people know their status and can start taking medication before any symptoms appear. This could help people prepare for the onset of symptoms and take steps to make their lives as enjoyable as possible while they are still able.
