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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease X-linked recessive 3

Charcot-Marie-Tooth disease X-linked recessive 3

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 3; CMTX 3; Charcot-Marie-Tooth Neuropathy X Type 3
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the childhood to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paraesthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. [from SNOMEDCT_US]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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