Huntington Disease

Huntington disease is an autosomal dominant neurodegenerative disorder caused by expanded CAG trinucleotide repeat in the HTT gene, causing progressive chorea, cognitive decline (dementia), and psychiatric disturbance. Onset is typically in mid-adulthood, with anticipation (earlier onset in successive generations). Neuropathology: caudate/putaminal atrophy. There is no cure; treatment is supportive and symptomatic (antidopaminergic agents for chorea, antidepressants/antipsychotics for psychiatric symptoms), plus genetic counseling.

Common Symptoms

Chorea/involuntary movements; cognitive decline/dementia; psychiatric disturbance/depression; mid-adult onset; family history

Causes and Pathogenesis

CAG-repeat expansion in HTT causes mutant huntingtin protein aggregation, preferentially degenerating striatal and cortical neurons.

Treatment

Symptomatic: antidopaminergic agents for chorea; antidepressants/antipsychotics; supportive care; genetic counseling

Preventive Measures

Genetic counseling; predictive testing with counseling; symptomatic care.

Department to Visit

It is recommended to visit the Neurology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.