Dentatorubral-pallidoluysian Atrophy - Signs and Symptoms

Signs and Symptoms

DRPLA can be juvenile-onset (< 20 years), early adult-onset (20–40 years), or late adult-onset (> 40 years). Late adult-onset DRPLA is characterized by ataxia, choreoathetosis and dementia. Early adult-onset DRPLA also includes seizures and myoclonus. Juvenile-onset DRPLA presents with ataxia and symptoms consistent with progressive myoclonus epilepsy (myoclonus, multiple seizure types and dementia). Other symptoms that have been described include cervical dystonia, corneal endothelial degeneration autism, and surgery-resistant obstructive sleep apnea.

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