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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

78 tests are in the database for this condition.

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Clinical tests (78 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

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Imported from Human Phenotype Ontology (HPO)

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