Overview
Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD D3 or desmin-related myopathy with LGMD phenotype, is a rare inherited muscle disease. It is caused by changes (mutations) in the TNPO3 gene, which provides instructions for a protein that helps move other proteins into the cell's nucleus. When this process does not work correctly, muscle cells gradually break down over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, and shoulders. People with LGMD1E typically notice weakness in these areas first, making it harder to climb stairs, rise from a chair, or lift their arms above their head. Some people also develop heart problems (cardiomyopathy) or breathing difficulties as the disease progresses. Symptoms usually begin in adulthood, though the age of onset can vary. There is currently no cure for LGMD1E. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring the heart and lungs. A team of specialists — including neurologists, cardiologists, and pulmonologists — typically works together to support people living with this condition. Research into gene-based and other disease-modifying therapies is ongoing, offering hope for future treatments.
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 chairTrouble lifting arms above the headWaddling or unusual walking patternMuscle wasting (loss of muscle bulk) around the hips and shouldersHeart muscle disease (cardiomyopathy)Irregular heartbeat (arrhythmia)Shortness of breath due to weakened breathing musclesFatigue and reduced exercise toleranceOccasional muscle pain or cramping
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 1E.
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 1E.
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 1E.
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 TNPO3 gene, and what does that mean for my prognosis?,How often should I have my heart and lungs checked, and what tests are recommended?,Should my family members be tested for this condition?,What physical activities are safe for me, and are there any I should avoid?,Are there any clinical trials for LGMD1E that I might be eligible for?,What signs should prompt me to go to the emergency room?,What support services — such as physical therapy, occupational therapy, or social work — are available to me?
Common questions about Autosomal dominant limb-girdle muscular dystrophy type 1E
What is Autosomal dominant limb-girdle muscular dystrophy type 1E?
Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD D3 or desmin-related myopathy with LGMD phenotype, is a rare inherited muscle disease. It is caused by changes (mutations) in the TNPO3 gene, which provides instructions for a protein that helps move other proteins into the cell's nucleus. When this process does not work correctly, muscle cells gradually break down over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, and shoulders. People with LGMD1E typically notice weakness in these areas first, making it
How is Autosomal dominant limb-girdle muscular dystrophy type 1E inherited?
Autosomal dominant limb-girdle muscular dystrophy type 1E 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 1E typically begin?
Typical onset of Autosomal dominant limb-girdle muscular dystrophy type 1E is adult. Age of onset can vary across affected individuals.