Abstract
A 7-year-old boy presented with insidious onset chronic progressive generalized stiffness and dystonia starting from both feet for last 4 years, abnormal speech, as well as feeding and swallowing difficulties for last 1 year. There was no history of cognitive decline, abnormal behavior, seizures, decreased/abnormal vision or hearing, abnormally deviated angle of the mouth or any other abnormal involuntary movements. Birth and antenatal history were not contributory. He had an affected elder female sibling who was symptomatic from the age of 6 years of age and who had mild cognitive impairment, extrapyramidal dysarthria, generalized dystonia and rigidity. His mother was symptomatic since her mid-thirties with progressively worsening semi-purposeful, dancing, rapid movements of the upper and lower limbs alternating with slow writhing movements of distal extremities (choreoathetosis), impaired cognition and emotional lability. His maternal grandfather became symptomatic in last 4 years with onset in the 6 th
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