CMT disease type I

CMT disease type I peroneal muscular atrophy: autosomal-dominant disease of varying presentation within families, caused by a defect of myelin production and becoming symptomatic at age 5-15 years; characterized by progressive segmental demyelination of peripheral nerves ('onion bulb' formation), sensory deficit, slowly progressive weakness and wasting of hand and foot muscles, walking difficulties, leg cramps and paraestheiae, signs of lower-limb lower motor neurone lesions, peroneal muscle atrophy ('inverted champagne bottle legs'), progressive pes cavus, flail foot, flaccid paralysis and loss of tendon reflexes, increasing gait effects, generalized mobility difficulties