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

Autosomal recessive limb-girdle muscular dystrophy type 2C

Synonyms
Adhalin deficiency, secondary; Duchenne-like muscular dystrophy, autosomal recessive, type 1; Gamma-Sarcoglycanopathy; Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Limb-girdle muscular dystrophy, type 2C; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; Maghrebian myopathy; Muscular dystrophy, Duchenne-like; Severe childhood autosomal recessive muscular dystrophy, North African type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. [from ORDO]

Available tests

65 tests are in the database for this condition.

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Clinical tests (65 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM, SCARMD2, SCG3, gamma-SG, SGCG
    Summary: sarcoglycan gamma

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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