Overview
DNAJB6-related limb-girdle muscular dystrophy D1 (also called LGMD D1, LGMD1D, or LGMD1E in older literature) is a rare inherited muscle disease caused by changes in the DNAJB6 gene. This gene provides instructions for making a protein that helps keep muscle cells healthy by managing how proteins fold and clump together. When the DNAJB6 protein does not work properly, harmful protein clumps build up inside muscle cells, slowly damaging them over time. The disease mainly affects the muscles around the hips, thighs, and shoulders — the so-called 'limb-girdle' muscles. People with this condition gradually develop weakness in these areas, which can make it harder to climb stairs, lift objects, or get up from a chair. Some people also develop weakness in the muscles of the lower legs. The heart and breathing muscles can be affected in some cases, which requires careful monitoring. There is currently no cure for DNAJB6-related LGMD D1. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and watching for complications such as heart or breathing problems. 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.
Also known as:
Key symptoms:
Weakness in the hip and thigh muscles, making it hard to climb stairs or rise from a chairWeakness in the shoulder and upper arm musclesDifficulty lifting arms above the headWeakness in the lower leg muscles (in some people)Waddling or unusual walking patternMuscle wasting (muscles look smaller than normal)Fatigue with physical activityDifficulty running or keeping up with peersOccasional muscle cramps or stiffnessHeart rhythm problems or weakened heart muscle (in some people)Shortness of breath, especially when lying flat (in some people)
Clinical phenotype terms (12)— hover any for plain English
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 DNAJB6-related limb-girdle muscular dystrophy D1.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for DNAJB6-related limb-girdle muscular dystrophy D1 at this time.
New trials open frequently. Follow this disease to get notified.
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 DNAJB6-related limb-girdle muscular dystrophy D1.
Community
No community posts yet. Be the first to share your experience with DNAJB6-related limb-girdle muscular dystrophy D1.
Start the conversation →Latest news about DNAJB6-related limb-girdle muscular dystrophy D1
No recent news articles for DNAJB6-related limb-girdle muscular dystrophy D1.
Follow this condition to be notified when news becomes available.
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 variant in the DNAJB6 gene do I have, and what does that mean for how my disease might progress?,How often should I have my heart and breathing checked, and what tests are needed?,Should other 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 or research studies I might be eligible for?,What signs should prompt me to go to the emergency room?,What specialists should be part of my care team, and how often should I see each one?
Common questions about DNAJB6-related limb-girdle muscular dystrophy D1
What is DNAJB6-related limb-girdle muscular dystrophy D1?
DNAJB6-related limb-girdle muscular dystrophy D1 (also called LGMD D1, LGMD1D, or LGMD1E in older literature) is a rare inherited muscle disease caused by changes in the DNAJB6 gene. This gene provides instructions for making a protein that helps keep muscle cells healthy by managing how proteins fold and clump together. When the DNAJB6 protein does not work properly, harmful protein clumps build up inside muscle cells, slowly damaging them over time. The disease mainly affects the muscles around the hips, thighs, and shoulders — the so-called 'limb-girdle' muscles. People with this condition
How is DNAJB6-related limb-girdle muscular dystrophy D1 inherited?
DNAJB6-related limb-girdle muscular dystrophy D1 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does DNAJB6-related limb-girdle muscular dystrophy D1 typically begin?
Typical onset of DNAJB6-related limb-girdle muscular dystrophy D1 is adult. Age of onset can vary across affected individuals.
Which specialists treat DNAJB6-related limb-girdle muscular dystrophy D1?
1 specialists and care centers treating DNAJB6-related limb-girdle muscular dystrophy D1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.