Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Alternative Names

  • LGMDR18
  • Muscular Dystrophy, Limb-Girlde, Type 2S
  • LGMD2S
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

615356

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q35.1

Description

Autosomal recessive limb-girdle muscular dystrophy-18 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. Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615356.1United Arab EmiratesUnknown Global developmental delay; Generalized...NM_021942.6:c.2938G>AHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
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