Juvenile-onset Huntington’s disease: a challenging diagnosis

The clinical presentation of juvenile-onset Huntington’s disease differs from the adult-onset variant which adult neurologists are familiar. We report how we eventually arrived at this diagnosis in a patient whose clinical presentation was marked by numerous confounders and distractors for several years. Only when new clinical signs were elicited, in particular oculomotor apraxia, and a detailed timeline of events was reconstituted, was genetic testing performed to confirm the diagnosis of Huntington’s disease. We reflect on several of the difficulties we experienced in securing this diagnosis.