Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Beta-sarcoglycan-related limb-girdle muscular dystrophy R4?
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LGMD Awareness Foundation, Inc.
An advocacy organization dedicated to globally raising awareness of the rare neuromuscular diseases known as limb-girdle muscular dystrophy (LGMD). Our focus is to provide curated educational information and resources for the LGMD community - aiming to assist in advancing their genetic diagnosis, care, and treatment. We also coordinate an annual worldwide LGMD Awareness Day on September 30.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
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Association Aux Pas du Coeur
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Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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