WebJan 23, 2024 · Charcot-Marie-Tooth disease (CMT) is one of a group of disorders that cause damage to the peripheral nerves—the nerves that transmit information and signals … WebJan 18, 2016 · Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2024] Associated conditions See all available tests in GTR for …
Charcot-Marie-Tooth Neuropathy Type 1 - PubMed
WebClinical characteristics: It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened. Diagnosis/testing: WebCharcot-Marie-Tooth disease - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by … afpeo nc3
Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews ...
WebMar 8, 2024 · Charcot-Marie-Tooth disease is an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands … WebCHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B;; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY;; PERONEAL MUSCULAR ATROPHY;; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B Toggle … WebCharcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. ORPHA:65753 Classification level: Group of disorders Synonym (s): afpesp franca