文摘
Juvenile Huntington’s disease (JHD) is a neurodegenerative disease with onset prior to the age of 21. While it accounts for a relatively small proportion of Huntington’s disease (HD) diagnoses, its impact is significant on the quality of life for those affected. Clinicians may be unaware that HD can present in childhood and adolescence, delaying diagnosis. HD develops due to an expanded CAG repeat in the huntington gene. Rigidity, dystonia, and seizures are more common in JHD. Cognitive changes such as executive function impairments and decline in school performance are common. The burden of psychiatric symptoms is considerable and includes depression, anxiety, impulsivity, and aggression. While novel approaches to treatment interventions are investigated, current care is limited to targeting symptoms rather than disease modification. Prompt diagnosis and symptomatic treatment can maximize quality of life for these patients.
