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

Charcot-Marie-Tooth disease axonal type 2S

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7, IGHMBP2
    Summary: immunoglobulin mu DNA binding protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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