Charcot Marie Tooth Disease Type 2

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Contents 1 More Specific Terms 2 Pathology 3 Genetics 4 Laboratory 5 More General Terms 6 Internet Database 7 References

More Specific Terms

• 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)

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
• normal or near normal nerve conduction velocity
• reduced amplitude of nerve action potentials consistent with axonal neuropathy

More General Terms

• Charcot-Marie-Tooth disease

Internet Database

OMIM: 118210
OMIM: 600882
OMIM: 302801

References

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

Charcot-Marie-Tooth disease type 2 (CMT2)