Huntington's Disease (HD)
What is it?
Huntington's disease is a progressive brain disorder caused by a single defective gene on chromosome 4 - one of the 23 human chromosomes that carry a person’s entire genetic code. This defect is "dominant," meaning that anyone who inherits it from a parent with Huntington's will eventually develop the disease. The defective gene codes for a protein called huntingtin. Defective huntingtin protein leads to brain changes that cause abnormal involuntary movements, a severe decline in thinking and reasoning skills, and irritability, depression and other mood changes.
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Additional names
This group contains additional names:
- Huntingtons chorea
- Huntington's Chorea
Signs & symptoms
Symptoms of Huntington's disease usually develop between ages 30 and 50, but they can appear as early as age 2 or as late as 80. The hallmark symptom of Huntington's disease is uncontrolled movement of the arms, legs, head, face and upper body. Huntington's disease also causes a decline in thinking and reasoning skills, including memory, concentration, judgment, and ability to plan and organize. Huntington's disease brain changes lead to alterations in mood, especially depression, anxiety, and uncharacteristic anger and irritability. Another common symptom is obsessive-compulsive behavior, leading a person to repeat the same question or activity over and over.
Diagnosis
A diagnostic genetic test is available. The test can confirm that the defective gene for huntingtin protein is the cause of symptoms in people with suspected Huntington's disease and can detect the defective gene in people who don't yet have symptoms but are at risk because a parent has Huntington's.
Experts strongly recommend professional genetic counseling both before and after genetic testing for Huntington's disease.
Treatment
There is currently no cure for Huntington's disease and no way to slow or stop the brain changes it causes. Treatments focus on managing symptoms. There is a few treatments that are recommended as first-line strategies for three of the disease's most troubling symptoms:
- Chorea (involuntary movements): usually it is recommended to start treatment with an atypical antipsychotic drug, such as olanzapine, is best. Others start with another type of drug called tetrabenazine.
- Irritability: For severe anger and threatening behavior, the recommended drug is atypical antipsychotic. For less severe, nonthreatening irritability, it is recommended to use selective serotonin reuptake inhibitor (SSRI), which is a type of antidepressant.
- Obsessive-compulsive thoughts and actions: it is recommended to use SSRIs as the standard treatment for these symptoms.
Other Huntington's symptoms, such as anxiety, depression and insomnia, also should be treated according to generally accepted guidelines.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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