What Are the Clinical Presentation of Charcot-Marie-Tooth Disease?
Discussion
Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy, is the most common cause of inherited neuropathies affecting 10-82:100,000 individuals. CMT comprises a heterogeneous group of peripheral, chronic inherited neuropathies that affects both the motor and sensory neurons and which have different genetic causations. Charcot and Marie were both French neurologists and Tooth was a British neurologist who described distal muscle wasting in 1886. Dejerine and Sottas reported the infantile form in 1893 which bears their name for this more severe clinical subtype. CMT classification is advancing as new testing becomes available but currently is classified as:
CMT1
Most common variant of CMT (70%)
Autosomal dominant
Has different subgroups but the most common subgroup is CMT1A which codes for a peripheral nerve protein 22 on chromosome 17
Identified most often with classic clinical presentation (see below)
Has slow nerve conduction and demyelination
CMT2
Autosomal dominant
Clinical indistinguishable from CMT except for nerve conduction studies
Has near normal nerve conduction and no demyelination
CMT3 or Dejerine-Sottas disease
Autosomal dominant or recessive
Has hypertrophy of nerve fibers often described as an “onion-bulb” in appearance on biopsy
This is the classic infantile onset clinical presentation (see below)
Has very slow nerve conduction times and demyeliation
CMT4
Autosomal recessive
Rare with distinct phenotypes
CMTX
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Source: PediatricEducation.org - Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
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