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Charcot-Marie-Tooth disease type 4A (CMT4A)
Also see Charcot-Marie-Tooth disease
Epidemiology:
- autosomal recessive forms of CMT in including CMT4A least frequent
Pathology:
- mixed pathology of axonal degenerative & demyelinating phenotypes
Genetics:
- autosomal recessive
- associated with defects in GDAP1 gene
Clinical manifestations:
- see Charot-Marie-Tooth disease (CMT)
- severe neuropathy of childhood
- early age of onset
- rapidly progressive distal weakness & atrophy of limbs
- inability to walk in late childhood or adolescence
- mild sensory loss
Laboratory:
- GDAP1 gene mutation
Special laboratory:
- nerve conduction studies
- severely decreased motor nerve conduction velocity
Database Correlations
OMIM 214400
References
OMIM :accession 214400