Charcot-Marie-Tooth disease, axonal type 2F

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Charcot-Marie-Tooth disease, axonal type 2F

An autosomal dominant form (OMIM:606595) of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. CMT2-type neuropathies are characterised by signs of axonal regeneration in absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2F onset is between 15 and 25 years, with muscle weakness and atrophy usually beginning in the feet and legs (peroneal distribution), followed by upper limb involvement.

Charcot-Marie-Tooth disease is classified in two groups, based on electrophysiology and histopathology:
• CMT1—Primary peripheral demyelinating neuropathy; and
• CMT2—Primary peripheral axonal neuropathy.
 
Molecular pathology
Defects of HSPB1, which encodes a member of the heat shock protein 20 family, cause Charcot-Marie-Tooth disease type 2F.
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