Overview
POMGNT2-related limb-girdle muscular dystrophy R24 (also called LGMD R24 or POMGNT2-related muscular dystrophy) is a rare inherited muscle disease caused by changes in the POMGNT2 gene. This gene provides instructions for making an enzyme that helps attach sugar molecules to a protein called alpha-dystroglycan. Alpha-dystroglycan acts like a glue that holds muscle cells together and connects them to the surrounding tissue. When POMGNT2 does not work properly, this connection is weakened, and muscle fibers become damaged over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, and shoulders — which is why it is called 'limb-girdle' muscular dystrophy. People with this condition typically experience progressive muscle weakness and wasting, making it harder to walk, climb stairs, or lift their arms. Some individuals may also have involvement of the heart muscle or breathing muscles as the disease progresses. There is currently no cure for POMGNT2-related LGMD R24. Treatment focuses on managing symptoms, maintaining function, and improving quality of life. This includes physical therapy, assistive devices, respiratory support if needed, and regular monitoring of the heart. A team of specialists works together to help people with this condition live as fully as possible.
Also known as:
Key symptoms:
Progressive weakness in the hip and shoulder musclesDifficulty walking, climbing stairs, or rising from a chairMuscle wasting (loss of muscle bulk) in the arms and legsFatigue with physical activityWaddling gait or changes in the way a person walksDifficulty raising arms above the headPossible heart muscle involvement (cardiomyopathy)Possible breathing difficulties as disease progressesElevated creatine kinase (CK) levels in the blood, a sign of muscle damagePossible mild intellectual disability 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
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for POMGNT2-related limb-girdle muscular dystrophy R24.
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Specialists
View all specialists →No specialists are currently listed for POMGNT2-related limb-girdle muscular dystrophy R24.
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 POMGNT2-related limb-girdle muscular dystrophy R24.
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 stage is my disease at, and what changes should I watch for over time?,Do I need heart or breathing tests, and how often should these be repeated?,What physical therapy program is best for my current level of strength?,Are there any clinical trials or research studies I might be eligible for?,Should my family members be tested for the POMGNT2 gene change?,What signs or symptoms should prompt me to go to the emergency room?,Are there any assistive devices or home modifications that could help me now?
Common questions about POMGNT2-related limb-girdle muscular dystrophy R24
What is POMGNT2-related limb-girdle muscular dystrophy R24?
POMGNT2-related limb-girdle muscular dystrophy R24 (also called LGMD R24 or POMGNT2-related muscular dystrophy) is a rare inherited muscle disease caused by changes in the POMGNT2 gene. This gene provides instructions for making an enzyme that helps attach sugar molecules to a protein called alpha-dystroglycan. Alpha-dystroglycan acts like a glue that holds muscle cells together and connects them to the surrounding tissue. When POMGNT2 does not work properly, this connection is weakened, and muscle fibers become damaged over time. The disease mainly affects the muscles closest to the center o
How is POMGNT2-related limb-girdle muscular dystrophy R24 inherited?
POMGNT2-related limb-girdle muscular dystrophy R24 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.