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

Charcot-Marie-Tooth disease recessive intermediate C

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

CMTRIC is an autosomal recessive 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. The age at onset and the severity of the disease are variable (summary by Azzedine et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive intermediate CMT, see CMTRIA (608340). [from OMIM]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARHGEF45, CMTRIC, DSMA4, GEF720, HMNR4, Syx, Tech, PLEKHG5
    Summary: pleckstrin homology and RhoGEF domain containing G5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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