Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

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Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2E | Beta-sarcoglycan-related LGMD R4 | Beta-sarcoglycanopathy | LGMD due to beta-sarcoglycan deficiency | LGMD type 2E | LGMD2E | Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency | Limb-girdle muscular dystrophy type 2E

A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy cardiomyopathy respiratory impairment tendon contractures scoliosis and exercise-induced myoglobinuria may be observed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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