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 April 2026
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Beta-sarcoglycan-related limb-girdle muscular dystrophy R4?
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Advocacy Organizations
Association Aux Pas du Coeur – Côte d’ivoire
Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.
Children’s Cardiomyopathy Foundation
CCF's mission is to accelerate the search for causes and cures for pediatric cardiomyopathy through increased research, education, awareness, advocacy, and support to affected children and their families.
Fundacion Powerchair Football Argentina
To develop Powerchair Football in Argentina in order to integrate people with motor disabilities (SMA, Duchenne muscular dystrophy, Achondroplasia, Rare Diseases) into sports practice and to promote their social inclusion, based on empowerment, independence, and the creation of new bonds and friendships.
Girls Chronically Rock
Girls Chronically Rock empowers and inspires people in the disability community through fashion, storytelling, and advocacy. Our mission is to create visibility, spark confidence, and promote inclusion by combining style with purpose.
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.
HeartCharged
Ending preventable deaths from undiagnosed heart conditions and sudden cardiac arrest, especially in young people, and providing patient-to-patient support.
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.
LGMD2D Foundation
Formed in September 2013, the LGMD2D Foundation is a registered 501(c)3 non-profit foundation built for families living with LGMD2D. Our mission is to expedite the development of treatments or a cure for LGMD, type 2D / R3. We educate patients/caregivers, own the only international LGMD2D registry, raise awareness, fund research for treatments, and partner to advocate for LGMD2D. lgmd2d.org
Muscular Dystrophy Pakistan
Muscular Dystrophy Pakistan is a patient-led nonprofit organization dedicated to raising awareness, promoting early diagnosis, supporting affected families, and advocating for equitable healthcare access for individuals living with muscular dystrophies and other rare genetic diseases across Pakistan, especially in underserved communities.
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.