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Definition

A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, 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.

Acronym

LGMDR18

Synonyms

LGMD2S
Limb-girdle muscular dystrophy 2S
Muscular dystrophy, limb-girdle, type 2S

Keywords

Limb-girdle muscular dystrophy

 
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