Use

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by involuntary motor disturbances, cognitive decline, and neuropsychiatric issues. It typically begins in the late 30s or 40s but can present earlier. Molecular testing is crucial for confirming the diagnosis in clinically suspected cases and for presymptomatic testing of individuals with a family history of HD, particularly when a CAG repeat expansion in the HTT gene is documented. The presence of this genetic mutation has significant implications for family members, as it informs them about their risk status and informs reproductive decisions.