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

More general terms

• Charcot-Marie-Tooth disease

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)
• Charcot-Marie-Tooth disease type 2L (CMT2L)
• Charcot-Marie-Tooth disease type 2P (CMT2P)

Patient information

Charcot-Marie-Tooth disease type 2 patient information

Database

• OMIM: https://mirror.omim.org/entry/118210
• OMIM: https://mirror.omim.org/entry/600882
• OMIM: https://mirror.omim.org/entry/302801