Huntington disease is an autosomal dominant neurodegenerative disorder.
Often presents in midlife but may appear at any age.
Clinical manifestations include chorea, cognitive decline, loss of coordination, and personality change.
Depression and suicide may be comorbid events.
In the absence of available effective treatment, many at-risk individuals forgo predictive genetic testing.
Huntington disease is a slowly progressive, neurodegenerative disorder characterized by chorea, incoordination, cognitive decline, personality changes, and psychiatric symptoms, culminating in immobility, mutism, and inanition. It is an autosomal dominant, trinucleotide repeat disorder that affects men and women equally. It characteristically appears in mid-adult life but can occur at any age. Treatment for depression, and to some degree behavioral problems and chorea, is possible. There are no disease-modifying therapies.
History and exam
Key diagnostic factors
- positive family history of Huntington disease
- known expansion of the CAG repeat length at the N-terminal end of the huntingtin gene
- impaired work or school performance
- personality change
- irritability and impulsivity
- twitching or restlessness
- loss of coordination
- deficit in fine motor coordination
- slowed rapid (saccadic) eye movements
- motor impersistence
- impaired tandem walking
Other diagnostic factors
- concentration impairment/task anxiety or apathy
- cognitive decline relative to spouse/siblings
- changes in personal habits/hygiene
- disinhibition or unusually anxious behavior
- depression, obsessions, and compulsions
- expansion of the CAG repeat length at the N-terminal end of the huntingtin gene
- other genetic factors
- family history
1st investigations to order
- no initial tests
Investigations to consider
- CAG repeat testing
- MRI or CT scan
- Tardive dyskinesia
- Dentatorubro-pallidoluysian atrophy (DRPLA)
- Clinical guidance in neuropalliative care: an AAN position statement
- Clinical recommendations to guide physical therapy practice for Huntington disease
Depression in adults
Huntington’s diseaseMore Patient leaflets
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