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GTR Home > Conditions/Phenotypes > Autosomal recessive limb-girdle muscular dystrophy type 2W

Autosomal recessive limb-girdle muscular dystrophy type 2W

Synonyms
Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue; Muscular dystrophy, limb-girdle, type 2W
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is an autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. Patients may also have dilated cardiomyopathy and have macroglossia with a small tip, resulting in a triangular appearance of the tongue (summary by Warman Chardon et al., 2015). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGMD2W, MDRCMTT, PINCH-2, PINCH2, LIMS2
    Summary: LIM zinc finger domain containing 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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