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

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Synonyms
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures; Muscular dystrophy, limb-girdle, type 2y
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive myopathy with rigid spine and distal joint contractures (MRRSDC) is characterized by onset of slowly progressive muscle weakness in the first or second decades of life. There is initial involvement of the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function; some patients may have mild cardiac involvement (summary by Kayman-Kurekci et al., 2014). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LAP1, LAP1B, LAP1C, LGMD2Y, TOR1AIP1
    Summary: torsin 1A interacting protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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