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

Charcot-Marie-Tooth disease type 2R

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R; Charcot-Marie-Tooth disease, axonal, type 2R
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare subtype of axonal hereditary motor and sensory neuropathy characterised by early-onset axial hypotonia, generalised muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. [from SNOMEDCT_US]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2R, RNF86, TRIM2
    Summary: tripartite motif containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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