Limb-girdle muscular dystrophy 2D, alpha-sarcoglycan deficiency (Q86052): Difference between revisions

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Latest revision as of 11:25, 15 August 2026

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2D belongs to the group of LGMD, that are genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD2D is a sarcoglycanopathy characterised by scapular winging and calf hypertrophy with cardiac involvement in about 20% of cases.

Language	Label	Description	Also known as
default for all languages	ID_1066309170
English	Limb-girdle muscular dystrophy 2D, alpha-sarcoglycan deficiency	Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2D belongs to the group of LGMD, that are genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD2D is a sarcoglycanopathy characterised by scapular winging and calf hypertrophy with cardiac involvement in about 20% of cases.