Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies.
BACKGROUND
Since the description of Charcot-Marie-Tooth disease over a century ago. it has now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic defects that affect the formation of specific nerve proteins.


RESULTS
This article summarizes the clinical presentation of various phenotypes of the hereditary motor sensory neuropathies and the hereditary sensory and autonomic neuropathies, genetic mutations, and their relevant protein products. Proper identification of the genetic defects provides the opportunity for better genetic counseling and hopefully therapies in the future.
Bertorini
Tulio
T
Department of Neurology, College of Medicine, University of Tennessee, Wesley Neurology Clinic, 1211 Union Avenue #400, Memphis, TN 38104, USA. tbertorini@aol.com
Narayanaswami
Pushpa
P
Rashed
Hani
H
D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D009431:Neural Conduction