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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease axonal type 2CC

Charcot-Marie-Tooth disease axonal type 2CC

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC

Summary

Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2CC, NFH, NEFH
    Summary: neurofilament heavy chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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