Overview
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4, also known as LGMD R4 or LGMD2E, is a rare inherited muscle disease caused by changes (mutations) in the SGCB gene. This gene provides instructions for making a protein called beta-sarcoglycan, which is an important building block that helps keep muscle fibers strong and intact. When this protein is missing or does not work properly, muscle fibers become fragile and break down over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, shoulders, and upper arms. This is why it is called 'limb-girdle' muscular dystrophy. People with this condition typically notice progressive muscle weakness and wasting, which can make walking, climbing stairs, and lifting objects increasingly difficult. Some individuals also develop heart muscle problems (cardiomyopathy) and breathing difficulties as the disease progresses. There is currently no cure for LGMD R4. Treatment focuses on managing symptoms, maintaining mobility, and protecting heart and lung function. A team of specialists including neurologists, cardiologists, and physical therapists work together to help people live as well as possible with this condition. Research into gene therapy and other disease-modifying treatments is ongoing, offering hope for the future.
Also known as:
Key symptoms:
Progressive weakness in the hip and shoulder musclesDifficulty walking, running, or climbing stairsFrequent fallsWaddling gait (walking with a side-to-side sway)Muscle wasting (loss of muscle bulk) in the hips, thighs, and shouldersDifficulty raising arms above the headEnlarged calf muscles (calf pseudohypertrophy)Heart muscle weakness (cardiomyopathy)Irregular heartbeat (arrhythmia)Shortness of breath, especially during activity or when lying flatFatigue and low energyDifficulty standing up from the floor or a chairSpine curvature (scoliosis) in some cases
Clinical phenotype terms (13)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
2 eventsSarepta Therapeutics, Inc. — PHASE3
Sarepta Therapeutics, Inc. — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Beta-sarcoglycan-related limb-girdle muscular dystrophy R4.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Beta-sarcoglycan-related limb-girdle muscular dystrophy R4.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,How often should my heart and lungs be checked, and what warning signs should prompt an urgent visit?,What physical therapy or exercise program is safe and beneficial for me at this stage?,Are there any clinical trials or gene therapy studies I might be eligible for?,What assistive devices or home modifications should I consider now or plan for in the future?,Are there any medications, anesthetics, or supplements I should avoid?,What support services or patient organizations can help me and my family?
Common questions about Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
What is Beta-sarcoglycan-related limb-girdle muscular dystrophy R4?
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4, also known as LGMD R4 or LGMD2E, is a rare inherited muscle disease caused by changes (mutations) in the SGCB gene. This gene provides instructions for making a protein called beta-sarcoglycan, which is an important building block that helps keep muscle fibers strong and intact. When this protein is missing or does not work properly, muscle fibers become fragile and break down over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, shoulders, and upper arms. This is why it is called 'li
How is Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 inherited?
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 typically begin?
Typical onset of Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Beta-sarcoglycan-related limb-girdle muscular dystrophy R4?
Yes — 2 recruiting clinical trials are currently listed for Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Beta-sarcoglycan-related limb-girdle muscular dystrophy R4?
3 specialists and care centers treating Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.