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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 4B1

Charcot-Marie-Tooth disease type 4B1

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B1; CMT 4B; CMT 4B1; Charcot-Marie-Tooth Neuropathy Type 4B1; Charcot-Marie-Tooth Neuropathy Type 4B1 (CMT4B1); Charcot-Marie-Tooth disease, Type 4B
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. It was initially described in an Italian family and around 10 additional families have been described so far. Onset occurs during early childhood with distal and proximal muscular weakness starting in the lower extremities, sensory loss and cranial nerve involvement. Foot deformities are frequent and diaphragmatic and facial involvement has been reported. CMT4B1 is caused by mutations in the gene encoding myotubularin-related protein 2 (MTMR2; 11q22), involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. [from SNOMEDCT_US]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT4B, CMT4B1, MTMR2
    Summary: myotubularin related protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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