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Definition

A form of autosomal dominant limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDD4 is characterized by onset of proximal muscle weakness in young adulthood, gait difficulties, increased serum creatine kinase, myalgia, and back pain. Some patients may have upper limb involvement. Disease severity and expressivity are highly variable.

Acronym

LGMDD4

Synonyms

LGMD1I
Muscular dystrophy, limb-girdle, type 1I

Keywords

Limb-girdle muscular dystrophy

 
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