Charcot-Marie-Tooth disease type 2 (CMT2)

Pathology: - non-demyelinating (axonal) neuropathy - axonal regeneration in the absence of obvious myelin alterations Genetics: -> chromosomal aberration on the distal aspect of 1p Laboratory: - nerve conduction studies 1) normal or near normal nerve conduction velocity 2) reduced amplitude of nerve action potentials consistent with axonal neuropathy

Specific

Charcot-Marie-Tooth disease type 2A1 (hereditary motor sensory neuropathy 2A1, CMT2A1) Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2B1 (CMT2B1) Charcot-Marie-Tooth disease type 2B; hereditary motor & sensory neuropathy 2 (CMT2B, HMSN2) Charcot-Marie-Tooth disease type 2D (CMT2D) Charcot-Marie-Tooth disease type 2E (CMT2E) Charcot-Marie-Tooth disease type 2G (CMT2G) Charcot-Marie-Tooth disease type 2I (CMT2I) Charcot-Marie-Tooth disease type 2J (CMT2J) Charcot-Marie-Tooth disease type 2K (CMT2K) Charcot-Marie-Tooth disease type 2L (CMT2L) Charcot-Marie-Tooth disease type 2P (CMT2P)

References

Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998