Overview
Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A), also known as myotilinopathy or LGMD D3, is a rare inherited muscle disease that mainly affects the muscles around the hips and shoulders — the 'limb-girdle' area. It is caused by changes (mutations) in the MYOT gene, which provides instructions for making a protein called myotilin that helps keep muscle fibers strong and organized. When myotilin does not work properly, muscle fibers gradually break down over time. People with LGMD1A usually notice weakness in the muscles of the hips, thighs, and upper arms first. This can make it harder to climb stairs, get up from a chair, or lift objects overhead. Some people also develop weakness in the muscles of the lower legs and feet, leading to foot drop or difficulty walking. Slurred speech or nasal-sounding speech can occur in some individuals because the muscles involved in speaking may also be affected. Heart muscle involvement (cardiomyopathy) and breathing difficulties have been reported in some cases. There is currently no cure for LGMD1A. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring for heart and breathing complications. A team of specialists works together to help people live as well as possible with this condition. The disease tends to progress slowly, and many people remain able to walk for decades after diagnosis.
Key symptoms:
Weakness in the hip and thigh musclesWeakness in the shoulder and upper arm musclesDifficulty climbing stairs or rising from a chairTrouble lifting arms above the headWeakness in the lower leg and foot musclesFoot drop (difficulty lifting the front of the foot while walking)Slurred or nasal-sounding speechMuscle wasting (loss of muscle bulk) in affected areasFatigue with physical activityOccasional heart muscle problems (cardiomyopathy)Breathing difficulties in some cases
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant limb-girdle muscular dystrophy type 1A.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant limb-girdle muscular dystrophy type 1A.
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 Autosomal dominant limb-girdle muscular dystrophy type 1A.
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 specific mutation do I have in the MYOT gene, and what does that mean for my prognosis?,Should my family members be tested, and if so, who should be tested first?,How often should I have my heart and breathing checked, and what tests are needed?,What physical activities are safe for me, and are there any I should avoid?,Are there any clinical trials for LGMD1A or myotilinopathy that I might be eligible for?,What signs should prompt me to go to the emergency room?,What assistive devices or home modifications might help me now or in the future?
Common questions about Autosomal dominant limb-girdle muscular dystrophy type 1A
What is Autosomal dominant limb-girdle muscular dystrophy type 1A?
Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A), also known as myotilinopathy or LGMD D3, is a rare inherited muscle disease that mainly affects the muscles around the hips and shoulders — the 'limb-girdle' area. It is caused by changes (mutations) in the MYOT gene, which provides instructions for making a protein called myotilin that helps keep muscle fibers strong and organized. When myotilin does not work properly, muscle fibers gradually break down over time. People with LGMD1A usually notice weakness in the muscles of the hips, thighs, and upper arms first. This can ma
How is Autosomal dominant limb-girdle muscular dystrophy type 1A inherited?
Autosomal dominant limb-girdle muscular dystrophy type 1A follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant limb-girdle muscular dystrophy type 1A typically begin?
Typical onset of Autosomal dominant limb-girdle muscular dystrophy type 1A is adult. Age of onset can vary across affected individuals.