AAEE case report #20: hereditary motor and sensory neuropathy, type I.
A case study is reported regarding a 32-year-old man with classic clinical and electrophysiologic features of hereditary motor and sensory neuropathy, type I (HMSN I), a slowly progressive autosomal dominant condition marked by slow motor and sensory velocities and generalized segmental demyelination. Another clinically similar autosomal dominant neuropathy (HMSN II) is distinguished from HMSN I by nearly normal nerve conduction velocity. Acquired demyelinating neuropathy may occasionally resemble HMSN I clinically, but the former demonstrates electrophysiologic features not seen in the latter such as conduction block, dispersed compound muscle action potentials, and differential slowing of conduction velocity. Neuropathologic studies of HMSN I suggest that both neuronal and Schwann cell distrubances play a role in pathogenesis.
Chad
D A
DA
Department of Neurology, University of Massachusetts Medical Center, Worcester 01655.
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000503:physiopathology; D003937:Diagnosis, Differential; D004576:Electromyography; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis*