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

Charcot-Marie-Tooth disease axonal type 2V

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. [from SNOMEDCT_US]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD, NAGLU
    Summary: N-acetyl-alpha-glucosaminidase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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