Huntington’s disease is a progressive brain disease that currently has no cure.
Huntington’s disease (HD) is a genetic disease that is caused by an error in the DNA at a specific gene. As a person ages, this error starts to affect the brain greatly in areas that control mood, behavior, and movement.
DNA is made up of a collection of genes. HD is passed down through generations by the error in the specific gene known as the huntingtin gene. The gene is inherited in a dominant manner, meaning a child has a 50/50 chance of inheriting the huntingtin gene if one parent has it.
Presentation of HD normally begins between the ages of 30 to 50 years old. Additionally, HD can present earlier in adolescents and young adults, which is known as Juvenile Huntington’s disease (JHD). Due to the progressive nature of this illness, symptoms appear subtle at first and gradually worsen over time.
Diagnosing HD comes from a collection of physical, neurological, and psychiatric exams, family history, and brain imaging. There is also genetic testing that can be done to identify if the error in the huntingtin gene is present.
Symptoms of HD can vary between individuals with this disease. As a whole, HD causes cognitive decline, behavioral changes, and involuntary movements.
Symptoms can include:
- Depression, insomnia, irritability
- Personality changes, fatigue, social withdrawal
- Obsessive-compulsive disorder, bipolar disorder
- Impaired judgment, forgetfulness, trouble processing information
- Difficulty with learning, organization, and impulse control
- Muscle rigidity (dystonia)
- Involuntary, jerky movements (chorea)
- Trouble with balance and walking, abnormal eye movements
- Difficulty in swallowing or talking
Treatment options for HD are to help manage symptoms, not prevent disease progression. Along with medications, additional therapies such as physical, speech, and occupational therapy are used to help control symptoms.
Movement symptoms: Currently there are two FDA approved drugs for chorea associated with HD, Xenazine and Austedo. Other medications used to help with the involuntary movements include antipsychotics, levetiracetam, and clonazepam.
Mood and behavior symptoms: Treatment is determined based on which symptoms are present. Medications used to help with mood and behavior symptoms include antidepressant, antipsychotic, and anticonvulsant medications.
For additional resources please visit the Huntington’s Disease Society of America (HDSA) at www.hdsa.org
- Toolkit: https://hdsa.org/wp-content/uploads/2022/03/2022-LetsTalkAboutHD-Toolkit.pdf
- Logo: https://hdsa.org/wp-content/uploads/2020/04/LetsTalkAboutHD-Logo.pdf
- HD hockey classic May 14th: https://hdsa.org/hd-hockey-classic/
- NIH: https://www.genome.gov/Genetic-Disorders/Huntingtons-Disease
- Stat check: