title: Update on Charcot-Marie-Tooth disease.
abstract: Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. CMT results from mutations in more than 40 genes expressed in Schwann cells and neurons causing overlapping phenotypes. The classic CMT phenotype reflects length-dependent axonal degeneration characterized by distal sensory loss and weakness, deep tendon reflex abnormalities, and skeletal deformities. Recent articles have provided insight into the molecular pathogenesis of CMT, which, for the first time, suggest potential therapeutic targets. Although there are currently no effective medications for CMT, multiple clinical trials are ongoing or being planned. This review will focus on the underlying pathomechanisms and diagnostic approaches of CMT and discuss the emerging therapeutic strategies.
authors.affiliation: Wayne State University, 421 East Canfield, Elliman Building 3209, Detroit, MI 48201, USA. apatzko@yahoo.com
authors.forename: Agnes
authors.initials: A
authors.lastname: Patzkó
authors.forename: Michael E
authors.initials: ME
authors.lastname: Shy
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology* / Q000628:therapy; D003937:Diagnosis, Differential; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010641:Phenotype