hereditary motor and sensory neuropathy


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Noun1.hereditary motor and sensory neuropathy - a form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant
neuropathy - any pathology of the peripheral nerves
References in periodicals archive ?
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT), is a heterogenous neuropathical group characterized by progressive muscular weakness and atrophy of the distal muscles, often associated with mild to moderate sensory loss, foot deformities including pes cavus and pes planus, gait disturbance, and depressed deep tendon reflexes (Lupski 1998).
Prevalence of hereditary motor and sensory neuropathy in Cantabria.
TABLE 1 Clinical and genetic classification of hereditary motor and sensory neuropathy, with the linked locus and gene if known (Pestronk 2004) Pattern of Inhe- CMT-Type ritance Phenotype Locus Gene (s) Demyeli- Dominant CMT1A 17p11 PMP22 nating CMT1B; CMT1E 1q22 MPZ CMT1C 16p13 LITAF CMT1D 10q21 ERG2 CMT1F 8p21 NEFL HNPP l7p11 PMP22-deletion HMSN3 (Dejerine- PMP22/MPZ/ Sottas) EGR2/8q23 Thermosensitive ?
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