Overview
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 (also called LGMD R6 or LGMD2F) is a rare inherited muscle disease caused by changes in the SGCD gene. This gene provides instructions for making a protein called delta-sarcoglycan, which is an important building block of a complex that protects muscle fibers during movement. When this protein is missing or not working properly, muscle fibers become fragile and break down over time. The disease mainly affects the muscles around the hips, thighs, and shoulders — the so-called 'limb-girdle' muscles. People with LGMD R6 typically notice weakness in these areas, which can make it hard to climb stairs, rise from a chair, lift objects overhead, or keep up with physical activities. The heart muscle can also be affected in some people, which is an important concern that needs regular monitoring. Right now, there is no cure for LGMD R6. Treatment focuses on managing symptoms, keeping muscles as strong and flexible as possible through physical therapy, and watching closely for heart or breathing problems. A team of specialists — including neurologists, cardiologists, and physiotherapists — work together to help people live as well as possible with this condition.
Also known as:
Key symptoms:
Weakness in the hip and thigh musclesWeakness in the shoulder and upper arm musclesDifficulty climbing stairs or getting up from the floorTrouble lifting arms above the headWaddling or unusual walking patternFrequent fallsMuscle wasting (muscles getting smaller over time)Calf muscles that look enlarged but are actually weakHeart muscle problems (cardiomyopathy)Shortness of breath with activityFatigue with everyday tasksPossible breathing difficulties as the disease progresses
Clinical phenotype terms (6)— 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
Treatments
No FDA-approved treatments are currently listed for Delta-sarcoglycan-related limb-girdle muscular dystrophy R6.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Delta-sarcoglycan-related limb-girdle muscular dystrophy R6.
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 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6.
Community
No community posts yet. Be the first to share your experience with Delta-sarcoglycan-related limb-girdle muscular dystrophy R6.
Start the conversation →Latest news about Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
No recent news articles for Delta-sarcoglycan-related limb-girdle muscular dystrophy R6.
Follow this condition to be notified when news becomes available.
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.Which specific mutation in the SGCD gene does my family member have, and what does that mean for how the disease might progress?,How often should we have heart and lung check-ups, and what warning signs should prompt us to seek care sooner?,Is physical therapy recommended, and are there any exercises we should avoid?,Are there any clinical trials or research studies we might be eligible for?,Should other family members be tested for this condition?,What mobility aids or home modifications should we start thinking about now?,Are there patient registries or support groups you recommend we connect with?
Common questions about Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
What is Delta-sarcoglycan-related limb-girdle muscular dystrophy R6?
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 (also called LGMD R6 or LGMD2F) is a rare inherited muscle disease caused by changes in the SGCD gene. This gene provides instructions for making a protein called delta-sarcoglycan, which is an important building block of a complex that protects muscle fibers during movement. When this protein is missing or not working properly, muscle fibers become fragile and break down over time. The disease mainly affects the muscles around the hips, thighs, and shoulders — the so-called 'limb-girdle' muscles. People with LGMD R6 typically notice
How is Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 inherited?
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 typically begin?
Typical onset of Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 is childhood. Age of onset can vary across affected individuals.