External ophthalmoplegia, juvenile parkinsonism and axonal polyneuropathy in two siblings.
In one of two siblings a clinical disorder was described, consisting of a slowly progressive juvenile parkinsonism with extensor plantar responses, external ophthalmoplegia with severe ptosis and a motor and sensory polyneuropathy. The younger sibling had only juvenile parkinsonism, Unilateral ptosis and a motor and sensory polyneuropathy. Their father was neurologically normal except for a unilateral ptosis. There did not seem to be consanguinity in this family.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001763:Blepharoptosis / Q000150:complications / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009886:Ophthalmoplegia / Q000150:complications* / Q000235:genetics; D010300:Parkinson Disease / Q000150:complications* / Q000235:genetics