Overview
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23, also called LGMD R23 or LAMA2-related LGMD, is a rare inherited muscle disease caused by changes (variants) in the LAMA2 gene. This gene provides instructions for making a protein called laminin alpha-2, which is an important building block that helps keep muscle fibers strong and stable. When this protein is missing or does not work properly, muscle fibers become fragile and break down over time. This condition 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 LGMD R23 typically notice progressive muscle weakness that makes it harder to walk, climb stairs, lift objects, or get up from the floor. The condition is different from the more severe LAMA2-related congenital muscular dystrophy (MDC1A), which starts at birth and is usually more serious. LGMD R23 tends to begin later and progress more slowly, though this can vary from person to person. There is currently no cure for LGMD R23. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring for complications such as breathing or heart problems. A team of specialists works 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 walking or waddling gaitTrouble climbing stairs or getting up from the floorDifficulty lifting arms above the headMuscle wasting (muscles getting smaller over time)Fatigue with physical activityPossible shortness of breath if breathing muscles are affectedPossible heart muscle involvement (cardiomyopathy) in some casesElevated 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
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23.
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Specialists
View all specialists →No specialists are currently listed for Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23.
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 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23.
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.How severe is my (or my child's) LAMA2 gene change, and what does that mean for how the disease might progress?,How often should I have heart and lung function checked, and what warning signs should prompt me to seek care sooner?,What type of physical therapy is most appropriate, and are there any exercises I should avoid?,Are there any clinical trials for LAMA2-related muscular dystrophy that I might be eligible for?,Should other family members be tested for this condition?,What assistive devices or home modifications might help me maintain independence?,What specialists should be part of my care team, and how do I coordinate care between them?
Common questions about Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
What is Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23?
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23, also called LGMD R23 or LAMA2-related LGMD, is a rare inherited muscle disease caused by changes (variants) in the LAMA2 gene. This gene provides instructions for making a protein called laminin alpha-2, which is an important building block that helps keep muscle fibers strong and stable. When this protein is missing or does not work properly, muscle fibers become fragile and break down over time. This condition mainly affects the muscles closest to the center of the body — the hips, thighs, and shoulders — which is why it is
How is Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 inherited?
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.