Overview
Limb-girdle muscular dystrophy due to POMK deficiency (also called LGMD-POMK or LGMD R22) is a rare inherited muscle disease caused by changes in the POMK 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 bridge that connects muscle cells to the surrounding tissue, keeping muscles strong and stable. When POMK does not work properly, this bridge breaks down, 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 notice weakness in these areas, making it harder to climb stairs, rise from a chair, or lift their arms. Some individuals may also have mildly elevated muscle enzymes in their blood, and muscle biopsy can show characteristic changes. There is currently no cure for LGMD-POMK. Treatment focuses on managing symptoms, maintaining mobility, and supporting quality of life through physical therapy, assistive devices, and regular monitoring. A team of specialists works together to help people live as fully 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 patternMuscle wasting (loss of muscle bulk) over timeElevated creatine kinase (CK) levels in blood testsFatigue with physical activityPossible mild intellectual disability in some casesPossible brain structural changes in some individuals
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 Limb-girdle muscular dystrophy due to POMK deficiency.
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Specialists
View all specialists →No specialists are currently listed for Limb-girdle muscular dystrophy due to POMK deficiency.
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 Limb-girdle muscular dystrophy due to POMK deficiency.
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 muscle weakness at, and how quickly might it progress?,Should I have my heart and lungs tested regularly, and how often?,What type of physical therapy is best for my specific situation?,Are there any clinical trials or research studies I might be eligible for?,What signs should prompt me to seek emergency care?,Are other family members at risk, and should they be tested?,What assistive devices or home modifications should I consider now or in the future?
Common questions about Limb-girdle muscular dystrophy due to POMK deficiency
What is Limb-girdle muscular dystrophy due to POMK deficiency?
Limb-girdle muscular dystrophy due to POMK deficiency (also called LGMD-POMK or LGMD R22) is a rare inherited muscle disease caused by changes in the POMK 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 bridge that connects muscle cells to the surrounding tissue, keeping muscles strong and stable. When POMK does not work properly, this bridge breaks down, and muscle fibers become damaged over time. The disease mainly affects the muscles closest to the center of the body — the hi
How is Limb-girdle muscular dystrophy due to POMK deficiency inherited?
Limb-girdle muscular dystrophy due to POMK deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.