Charcot Marie Tooth
Charcot–Marie–Tooth disease (CMT), or hereditary peripheral neuropathy, is the most common inherited neurological disease. CMT affects both motor and sensory nerves, causing difficulty walking due to foot drop and numbness, or neuropathic pain. The subtypes of CMTs vary by nerve conduction study and inheritance patterns. Multiple genes have been associated with CMT, and the different CMTs exhibit autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance patterns. The most common form, CMT1A, is caused by a duplication of the PMP22 gene. Genetic counseling should address inter- and intra-familial phenotypic variability and discuss management issues.
KeywordsGenetic Testing Genetic Counselor Neuropathic Pain Nerve Conduction Study Compound Muscle Action Potential
Charcot–Marie–Tooth (CMT) (MOV 384472 kb)
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