U.S. flag

An official website of the United States government

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

Autosomal recessive limb-girdle muscular dystrophy type 2D

Synonyms
ADHALINOPATHY, PRIMARY; Alpha-Sarcoglycanopathy; Duchenne-like autosomal recessive muscular dystrophy, type 2; Limb-girdle muscular dystrophy, type 2D; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; Muscular dystrophy limb-girdle with alpha-sarcoglycan
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

Available tests

71 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (71 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin, SGCA
    Summary: sarcoglycan alpha

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.