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Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome.
Neurol Clin. 1989 Feb; 7(1):9-23.NC

Abstract

The Charcot-Marie-Tooth (CMT) syndrome is also referred to as hereditary motor-sensory neuropathy (HMSN). It is not a single disease but has a multitude of genetic causes. The typical clinical characteristics are distal muscle weakness and atrophy, depressed tendon reflexes, often slow motor NCV, and the frequent finding of other similarly affected relatives. The most common variant of this syndrome is HMSN-I showing autosomal dominant inheritance, markedly slow motor NCV and nerve hypertrophy. One form of HMSN-I is linked to the Duffy locus on chromosome 1. There are numerous other varieties of HMSN including other autosomal dominant conditions such as HMSN-II (with nearly normal motor NCV) and several types of familial amyloid neuropathy (with specific amino acid substitutions in transthyretin); autosomal recessive conditions such as HMSN-III (Déjérine-Sottas hypertrophic neuropathy of childhood) and Refsum's disease (defect of phytanic acid metabolism); and conditions produced by mutations on the X chromosome such as X-linked HMSN, Fabry trihexoside storage disease, and adrenomyeloneuropathy. The known biochemical abnormalities, chromosomal locations, clinical findings and genetic counseling of these disorders are reviewed.

Authors+Show Affiliations

VA Medical Center, University of Washington Medical School, Seattle.

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, Non-P.H.S.
Review

Language

eng

PubMed ID

2646524

Citation

Bird, T D.. "Hereditary Motor-sensory Neuropathies. Charcot-Marie-Tooth Syndrome." Neurologic Clinics, vol. 7, no. 1, 1989, pp. 9-23.
Bird TD. Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. Neurol Clin. 1989;7(1):9-23.
Bird, T. D. (1989). Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. Neurologic Clinics, 7(1), 9-23.
Bird TD. Hereditary Motor-sensory Neuropathies. Charcot-Marie-Tooth Syndrome. Neurol Clin. 1989;7(1):9-23. PubMed PMID: 2646524.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. A1 - Bird,T D, PY - 1989/2/1/pubmed PY - 1989/2/1/medline PY - 1989/2/1/entrez SP - 9 EP - 23 JF - Neurologic clinics JO - Neurol Clin VL - 7 IS - 1 N2 - The Charcot-Marie-Tooth (CMT) syndrome is also referred to as hereditary motor-sensory neuropathy (HMSN). It is not a single disease but has a multitude of genetic causes. The typical clinical characteristics are distal muscle weakness and atrophy, depressed tendon reflexes, often slow motor NCV, and the frequent finding of other similarly affected relatives. The most common variant of this syndrome is HMSN-I showing autosomal dominant inheritance, markedly slow motor NCV and nerve hypertrophy. One form of HMSN-I is linked to the Duffy locus on chromosome 1. There are numerous other varieties of HMSN including other autosomal dominant conditions such as HMSN-II (with nearly normal motor NCV) and several types of familial amyloid neuropathy (with specific amino acid substitutions in transthyretin); autosomal recessive conditions such as HMSN-III (Déjérine-Sottas hypertrophic neuropathy of childhood) and Refsum's disease (defect of phytanic acid metabolism); and conditions produced by mutations on the X chromosome such as X-linked HMSN, Fabry trihexoside storage disease, and adrenomyeloneuropathy. The known biochemical abnormalities, chromosomal locations, clinical findings and genetic counseling of these disorders are reviewed. SN - 0733-8619 UR - https://www.unboundmedicine.com/medline/citation/2646524/Hereditary_motor_sensory_neuropathies__Charcot_Marie_Tooth_syndrome_ L2 - https://medlineplus.gov/spinalmuscularatrophy.html DB - PRIME DP - Unbound Medicine ER -