Overview
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5, also known as LGMD R5, LGMD2C, or gamma-sarcoglycanopathy, is a rare inherited muscle disease. It belongs to a group of conditions called limb-girdle muscular dystrophies, which mainly affect the muscles closest to the body — the hips, thighs, shoulders, and upper arms. The disease is caused by changes (mutations) in the SGCG gene, which provides instructions for making a protein called gamma-sarcoglycan. This protein is part of a complex that helps protect muscle fibers from damage during movement. Without it working properly, muscle fibers break down over time. Symptoms usually begin in childhood or early teenage years. Children may have trouble running, climbing stairs, or keeping up with peers. Over time, weakness can spread and many people lose the ability to walk. The heart and breathing muscles can also be affected in some cases, which requires careful monitoring. There is currently no cure for LGMD R5. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring the heart and lungs. Supportive care — including braces, wheelchairs, and breathing support — plays a major role in helping people live as fully as possible. Research into gene therapy and other targeted treatments is ongoing and offers hope for the future.
Also known as:
Key symptoms:
Weakness in the hip and shoulder musclesDifficulty running, jumping, or climbing stairsFrequent fallsWaddling walk or walking on tiptoesEnlarged calf muscles (pseudohypertrophy)Difficulty rising from the floor or a chairScoliosis (curved spine)Fatigue with physical activityShortness of breath (in later stages)Heart rhythm problems or weakened heart muscle (in some people)Loss of ability to walk in later disease stages
Clinical phenotype terms (27)— 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
1 eventAtamyo Therapeutics — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5.
1 clinical trialare 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 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5.
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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 I watch for at home?,Are there any clinical trials for LGMD R5 that I or my child might be eligible for?,What physical activities are safe, and are there any I should avoid to protect my muscles?,When should we start thinking about mobility aids, and what resources are available to help with this transition?,Is there a multidisciplinary neuromuscular clinic nearby where I can receive coordinated care?,What should I tell the school or employer about accommodations that may be needed?
Common questions about Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
What is Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5?
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5, also known as LGMD R5, LGMD2C, or gamma-sarcoglycanopathy, is a rare inherited muscle disease. It belongs to a group of conditions called limb-girdle muscular dystrophies, which mainly affect the muscles closest to the body — the hips, thighs, shoulders, and upper arms. The disease is caused by changes (mutations) in the SGCG gene, which provides instructions for making a protein called gamma-sarcoglycan. This protein is part of a complex that helps protect muscle fibers from damage during movement. Without it working properly, muscl
How is Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 inherited?
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 typically begin?
Typical onset of Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5?
Yes — 1 recruiting clinical trial is currently listed for Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5?
5 specialists and care centers treating Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.