Charcot-Marie-Tooth disease, axonal type 2L
Charcot-Marie-Tooth disease, axonal type 2LAn autosomal dominant form (OMIM:608673) 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.
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.
Defects of HSPB8, which encodes a member of the heat shock protein 20 family, cause Charcot-Marie-Tooth disease type 2L.