| Main clinical features
|
onset of a neurodegenerative disorder after normal early development; in infancy, abnormal dystonic gait with frequent falls and subsequent dystonia of the upper limbs, with rapid escalation of the symptoms, and increased serum creatine kinase ; dystonic movements of the face, limbs, and trunk associated with loss of the ability to walk independently
brain imaging showed progressive abnormal T2-weighted hyperintensities in the striatum, with subtle hypointensities in the substantia nigra |