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GTR Home > Conditions/Phenotypes > Autosomal recessive limb-girdle muscular dystrophy type R18

Autosomal recessive limb-girdle muscular dystrophy type R18

Synonyms
Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy, type 2S; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive limb-girdle muscular dystrophy-18 (LGMD18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C4orf41, FOIGR, GRY, LGMD2S, LGMDR18, TRAPPC11
    Summary: trafficking protein particle complex subunit 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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