Overview
POGLUT1-related limb-girdle muscular dystrophy R21 (also called LGMD R21 or LGMD-POGLUT1) is a rare inherited muscle disease caused by changes in the POGLUT1 gene. This gene provides instructions for making an enzyme called protein O-glucosyltransferase 1, which helps attach sugar molecules to certain proteins. Without this enzyme working properly, important muscle proteins — especially those in the Notch signaling pathway — do not function correctly, leading to progressive muscle damage over time. The disease mainly affects the muscles closest to the center of the body, such as those in the hips, thighs, and shoulders. People with this condition typically notice weakness in these areas first, which can make it harder to climb stairs, rise from a chair, or lift their arms. Over time, the weakness may spread to other muscle groups. Some people also develop heart or breathing problems as the disease progresses. There is currently no cure for LGMD R21. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring for complications such as heart or lung involvement. A team of specialists works together to help people live as comfortably and independently as possible.
Also known as:
Key symptoms:
Weakness in the hip and thigh musclesWeakness in the shoulder and upper arm musclesDifficulty climbing stairs or rising from a seated positionTrouble lifting arms above the headWaddling or unusual walking patternMuscle wasting (loss of muscle bulk) over timeFatigue with physical activityPossible heart muscle involvement (cardiomyopathy)Possible breathing difficulties as disease progressesElevated creatine kinase (CK) levels in the blood, a sign of muscle damage
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for POGLUT1-related limb-girdle muscular dystrophy R21.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for POGLUT1-related limb-girdle muscular dystrophy R21 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for POGLUT1-related limb-girdle muscular dystrophy R21.
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 POGLUT1-related limb-girdle muscular dystrophy R21.
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.Which muscles are most affected in my case, and how quickly do you expect the weakness to progress?,Should I have my heart and lungs checked regularly, and how often?,What type of physical therapy is most appropriate for my stage of the disease?,Are there any clinical trials or research studies I might be eligible to join?,Should my family members be tested for the POGLUT1 gene change?,What warning signs should prompt me to seek emergency care?,Are there any activities I should avoid to protect my muscles or prevent injury?
Common questions about POGLUT1-related limb-girdle muscular dystrophy R21
What is POGLUT1-related limb-girdle muscular dystrophy R21?
POGLUT1-related limb-girdle muscular dystrophy R21 (also called LGMD R21 or LGMD-POGLUT1) is a rare inherited muscle disease caused by changes in the POGLUT1 gene. This gene provides instructions for making an enzyme called protein O-glucosyltransferase 1, which helps attach sugar molecules to certain proteins. Without this enzyme working properly, important muscle proteins — especially those in the Notch signaling pathway — do not function correctly, leading to progressive muscle damage over time. The disease mainly affects the muscles closest to the center of the body, such as those in the
How is POGLUT1-related limb-girdle muscular dystrophy R21 inherited?
POGLUT1-related limb-girdle muscular dystrophy R21 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does POGLUT1-related limb-girdle muscular dystrophy R21 typically begin?
Typical onset of POGLUT1-related limb-girdle muscular dystrophy R21 is adult. Age of onset can vary across affected individuals.