title: [Developments in hereditary neuropathies].
abstract: Hereditary sensorimotor neuropathies, or Charcot-Marie-Tooth disease (CMT) comprise a group of diseases with heterogeneous clinical, electrophysiological and genetic expression. They are classified by the mode of inheritance (autosomal dominant, X-linked dominant, autosomal recessive) and their electrophysiological characteristics taking into account the speed of motor conduction of the median nerve (demyelinating, intermediary and axonal forms). Certain purely motor forms are called spinal CMT or hereditary distal motor neuropathy, or distal spinal amyotrophy. CMT involving an important sensorial component, trophic disorders, or signs of dysautonomia are included in the classification of hereditary sensory and autonomic neuropathies.
authors.affiliation: Centre de référence des pathologies neuromusculaires de Paris-Est, groupe hospitalier Pitié-Salpêtrière, 47 boulevard de l'Hôpital, Paris cedex 13, France. odile.dubourg@psl.aphp.fr
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D000076123:DNA (Cytosine-5-)-Methyltransferase 1; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics; D055724:Electrophysiological Phenomena; D019204:GTP-Binding Proteins / Q000235:genetics; D050172:Genes, X-Linked; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification; D006801:Humans; D008475:Median Nerve / Q000503:physiopathology; D008565:Membrane Proteins / Q000235:genetics; D009431:Neural Conduction
chemical_list: D008565:Membrane Proteins; D000076123:DNA (Cytosine-5-)-Methyltransferase 1; D004248:DNA (Cytosine-5-)-Methyltransferases; C440006:ATL1 protein, human; D019204:GTP-Binding Proteins