Charcot-Marie-Tooth (CMT) and hereditary neuropathies are genetically heterogeneous disorders primarily affecting peripheral nerves in a length-dependent pattern with symmetrical mot...
Classic presentation: motor-greater-than-sensory polyneuropathy
Family history
Nerve conduction studies (NCS)/electromyography (EMG)
Accurate genetic diagnosis may be difficult due to the genet...
No current treatments significantly alter the clinical course of patients with CMT.
An important goal is to maintain mobility, flexibility, and muscular strength.
Treatment is supportive and m...
A list of genes and variants can be found at the Inherited Neuropathy Variant Browser: https://hihg.med.miami.edu/neuropathybrowser
Charcot-Marie-Tooth Association: https://www.cmtausa.org/
G60.0 Hereditary motor and sensory neuropathy
G60.8 Other hereditary and idiopathic neuropathies
G60.9 Hereditary and idiopathic neuropathy, unspecified
G54.5 Neuralgic amyotrophy
3981000...
CMT presents in youth, adolescence, or early adult and with progressive distal muscle weakness and wasting, foot deformities, and areflexia.
If family history is lacking, rule out treat...
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