Huntington disease is an inherited brain disorder caused by an expanded CAG repeat in the huntingtin gene, passed on in an autosomal dominant pattern. It slowly causes movement problems, thinking decline and psychiatric symptoms, usually starting in midlife.
Key symptoms
- Involuntary jerky, dance-like movements (chorea)
- Clumsiness, trouble walking and frequent falls
- Depression, irritability or impulsive behavior
- Trouble planning, focusing and organizing
What you find on exam
- Chorea of the face, trunk and limbs
- Gait and balance; trouble keeping the tongue out
- Eye movement problems, slow saccades
- Mental status and mood screening, including suicide risk
Tests
- Genetic test for the CAG repeat, with counseling before and after
- Detailed family history across generations
- MRI brain: shrinking caudate nucleus
- Screening for other causes of chorea when family history is unclear
Treatment basics
- Tetrabenazine or deutetrabenazine for chorea
- Antidepressants and psychological support for mood symptoms
- Physical, speech and occupational therapy
- Swallowing safety, nutrition and long-term care planning
Red flags
- Suicidal thoughts or severe depression
- Choking or aspiration from swallowing problems
- Frequent falls with head injury
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Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.