Overview
Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B), also known as LMNA-related muscular dystrophy or Emery-Dreifuss muscular dystrophy type 2 (in some classifications), is a rare inherited muscle disease caused by changes in the LMNA gene. This gene provides instructions for making proteins called lamin A and lamin C, which help give the cell's nucleus its structure and stability. When these proteins do not work properly, muscle cells become fragile and break down over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, and shoulders — making it harder to climb stairs, rise from a chair, or lift your arms. Weakness tends to get worse slowly over many years. One of the most important features of LGMD1B is that it also affects the heart. Many people develop an irregular heartbeat (arrhythmia) or a weakened heart muscle (dilated cardiomyopathy), which can be life-threatening if not caught and treated early. There is currently no cure for LGMD1B. Treatment focuses on managing symptoms, protecting heart health, and maintaining mobility for as long as possible. This includes physical therapy, heart medications, pacemakers or defibrillators when needed, and regular monitoring by a team of specialists. With careful heart management, many people with LGMD1B can live full lives, though the disease does progress over time.
Key symptoms:
Weakness in the hip and thigh musclesWeakness in the shoulder and upper arm musclesDifficulty climbing stairs or getting up from a chairTrouble lifting arms above the headWaddling or unusual walking patternIrregular heartbeat (arrhythmia)Weakened heart muscle (dilated cardiomyopathy)Fainting or near-fainting episodesFatigue and low energyMuscle wasting over timeDifficulty running or keeping up with physical activityShortness of breath, especially with exertion
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)
FDA & Trial Timeline
3 eventsUniversitas Padjadjaran — NA
Virginia Commonwealth University — NA
Pitié-Salpêtrière Hospital
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant limb-girdle muscular dystrophy type 1B.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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 1B.
Community
No community posts yet. Be the first to share your experience with Autosomal dominant limb-girdle muscular dystrophy type 1B.
Start the conversation →Latest news about Autosomal dominant limb-girdle muscular dystrophy type 1B
Disease timeline:
New recruiting trial: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
A new clinical trial is recruiting patients for Autosomal dominant limb-girdle muscular dystrophy type 1B
New recruiting trial: Effect of Modified Poco-Poco Exercise to Frailty Stages, Expression of Global DNA Methylation, GDF15 and Lamin A COP
A new clinical trial is recruiting patients for Autosomal dominant limb-girdle muscular dystrophy type 1B
New trial: Long-Term Development of Muscular Dystrophy Outcome Assessments
Phase NA trial recruiting.
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 often should I have my heart checked, and what tests do I need?,At what point would you recommend a pacemaker or defibrillator for me?,Should my family members be tested for the LMNA gene change?,What physical activities are safe for me, and which should I avoid?,Are there any clinical trials for LGMD1B that I might be eligible for?,What signs of worsening should prompt me to contact you urgently?,Who else should be on my care team, and how do I coordinate between specialists?
Common questions about Autosomal dominant limb-girdle muscular dystrophy type 1B
What is Autosomal dominant limb-girdle muscular dystrophy type 1B?
Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B), also known as LMNA-related muscular dystrophy or Emery-Dreifuss muscular dystrophy type 2 (in some classifications), is a rare inherited muscle disease caused by changes in the LMNA gene. This gene provides instructions for making proteins called lamin A and lamin C, which help give the cell's nucleus its structure and stability. When these proteins do not work properly, muscle cells become fragile and break down over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, and should
How is Autosomal dominant limb-girdle muscular dystrophy type 1B inherited?
Autosomal dominant limb-girdle muscular dystrophy type 1B 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 1B typically begin?
Typical onset of Autosomal dominant limb-girdle muscular dystrophy type 1B is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Autosomal dominant limb-girdle muscular dystrophy type 1B?
Yes — 1 recruiting clinical trial is currently listed for Autosomal dominant limb-girdle muscular dystrophy type 1B on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autosomal dominant limb-girdle muscular dystrophy type 1B?
2 specialists and care centers treating Autosomal dominant limb-girdle muscular dystrophy type 1B are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.