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A family study of Charcot-Marie-Tooth disease.
J Med Genet. 1982 Apr; 19(2):88-93.JM

Abstract

Forty-seven cases of Charcot-Marie-Tooth peripheral neuropathy were seen in 18 families within a defined area, with a disease prevalence of 1 in 16 400. Maximum motor nerve conduction velocity (MNCV) measurement divided off two types of neuropathy (MNCV less than 30 ms-1 and greater than 40 ms-1), but did not distinguish clinically affected from normal in families whose probands had median nerve MNCV greater than 40 ms-1. In the neuronal type of neuropathy ((MNCV greater than 40 ms-1) two genotypes were seen, autosomal dominant (ADN) and autosomal recessive (ARN). Most cases with the demyelinating type (MNCV less than 30 ms-1) had an autosomal dominant genotype (ADD) but one family had possible X linked recessive inheritance (XRD). In one autosomal dominant family a father and son had different electrophysiological types of neuropathy. Peroneal muscle weakness was progressive with age in the ADD genotype and certain patterns of phenotypic features were associated with the major genotypes. Age of onset was not found to be reliable in distinguishing genotypes. Care is needed when counselling isolated male cases because of asymptomatic affected females in the autosomal dominant genotypes, and the possibility of ill defined X linked forms.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

6281434

Citation

Brooks, A P., and A E. Emery. "A Family Study of Charcot-Marie-Tooth Disease." Journal of Medical Genetics, vol. 19, no. 2, 1982, pp. 88-93.
Brooks AP, Emery AE. A family study of Charcot-Marie-Tooth disease. J Med Genet. 1982;19(2):88-93.
Brooks, A. P., & Emery, A. E. (1982). A family study of Charcot-Marie-Tooth disease. Journal of Medical Genetics, 19(2), 88-93.
Brooks AP, Emery AE. A Family Study of Charcot-Marie-Tooth Disease. J Med Genet. 1982;19(2):88-93. PubMed PMID: 6281434.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A family study of Charcot-Marie-Tooth disease. AU - Brooks,A P, AU - Emery,A E, PY - 1982/4/1/pubmed PY - 1982/4/1/medline PY - 1982/4/1/entrez SP - 88 EP - 93 JF - Journal of medical genetics JO - J Med Genet VL - 19 IS - 2 N2 - Forty-seven cases of Charcot-Marie-Tooth peripheral neuropathy were seen in 18 families within a defined area, with a disease prevalence of 1 in 16 400. Maximum motor nerve conduction velocity (MNCV) measurement divided off two types of neuropathy (MNCV less than 30 ms-1 and greater than 40 ms-1), but did not distinguish clinically affected from normal in families whose probands had median nerve MNCV greater than 40 ms-1. In the neuronal type of neuropathy ((MNCV greater than 40 ms-1) two genotypes were seen, autosomal dominant (ADN) and autosomal recessive (ARN). Most cases with the demyelinating type (MNCV less than 30 ms-1) had an autosomal dominant genotype (ADD) but one family had possible X linked recessive inheritance (XRD). In one autosomal dominant family a father and son had different electrophysiological types of neuropathy. Peroneal muscle weakness was progressive with age in the ADD genotype and certain patterns of phenotypic features were associated with the major genotypes. Age of onset was not found to be reliable in distinguishing genotypes. Care is needed when counselling isolated male cases because of asymptomatic affected females in the autosomal dominant genotypes, and the possibility of ill defined X linked forms. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/6281434/A_family_study_of_Charcot_Marie_Tooth_disease_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=6281434 DB - PRIME DP - Unbound Medicine ER -