A hereditary neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HTT gene on chromosome 4. It causes progressive breakdown of nerve cells in the brain, affecting movement, cognition, and psychiatric health. Inheritance is autosomal dominant with complete penetrance.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Inevitably progressive with no cure. Symptom onset to death typically 15-20 years. Juvenile onset (<20 years) progresses faster (8-10 years). Chorea may improve in late stages. Genetic anticipation with paternal transmission causes earlier onset in offspring. Suicide risk is 4-6x higher in early symptomatic phase. Tetrabenazine and deutetrabenazine manage chorea. Multidisciplinary care improves quality of life. Predictive testing available for at-risk individuals.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning