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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease X-linked dominant 6

Charcot-Marie-Tooth disease X-linked dominant 6

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

A rare genetic principally axonal peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, pan modal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). [from SNOMEDCT_US]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMTX6, GS1-358P8.4, PDK3
    Summary: pyruvate dehydrogenase kinase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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