North Carolina Neurological Foundation (NCNF)

Juvenile Huntington Disease

Juvenile Huntington disease is a rare form of Huntington disease with onset before age 20, caused by CAG repeat expansions in the HTT gene. Clinical manifestations include parkinsonism, rigidity, seizures, cognitive decline, and behavioral disturbances. Pathophysiology involves striatal and cortical neurodegeneration. Diagnosis is confirmed genetically and supported by MRI. Management is symptomatic, including pharmacologic therapy for movement and behavioral symptoms, physical therapy, and supportive care; prognosis is poor with rapid disease progression.