Overview
Definition
Fatal genetic neurodegenerative disorder.
Epidemiology
Varies globally depending on genetics, environment, or exposure.
Etiology & Risk Factors
- Autosomal dominant CAG trinucleotide repeat expansion in HTT gene.
Clinical Symptoms
- Chorea (involuntary movements)
- progressive dementia
- psychiatric disturbances.
Clinical Approach
Diagnosis
- Genetic testing (CAG repeats > 39)
- MRI (caudate atrophy).
Management
- Symptomatic (Tetrabenazine for chorea)
- no cure.
Complications
- Death
- usually from aspiration pneumonia or suicide.