GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, recessive intermediate A

Summary

Autosomal recessive intermediate Charcot-Marie-Tooth disease A (CMTRIA) is a peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. Onset is usually in early childhood (summary by Senderek et al., 2003). Genetic Heterogeneity of Recessive Intermediate Charcot-Marie-Tooth Disease See also CMTRIB (613641), caused by mutation in the KARS gene (601421) on chromosome 16q; CMTRIC (615376), caused by mutation in the PLEKHG5 gene (611101) on chromosome 1p36; and CMTRID (616039), caused by mutation in the COX6A1 gene (602072) on chromosome 12q24. [from OMIM]

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