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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 4

Charcot-Marie-Tooth disease type 4

Synonyms
Charcot-Marie-Tooth, Type 4
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. [from SNOMEDCT_US]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT4B3, DENND7A, MTMR5, SBF1
    Summary: SET binding factor 1

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