Overview
BVES-related limb-girdle muscular dystrophy (also called LGMD R25 or LGMD2 BVES) is a rare inherited muscle disease caused by changes in the BVES gene. BVES stands for 'blood vessel epicardial substance,' and the protein it makes helps keep muscle cells healthy and connected. When this gene does not work properly, muscle fibers gradually break down, leading to progressive weakness mainly in the muscles around the hips, thighs, and shoulders — the 'limb-girdle' region of the body. People with this condition typically notice difficulty climbing stairs, rising from a chair, lifting their arms overhead, or keeping up with physical activities. Weakness tends to worsen slowly over time. Some individuals also develop heart rhythm problems (arrhythmias) or mild heart muscle weakness (cardiomyopathy), which makes regular heart monitoring very important. Breathing muscles can also be affected in some cases. There is currently no cure for BVES-related limb-girdle muscular dystrophy. Treatment focuses on managing symptoms, maintaining strength and mobility through physical and occupational therapy, and monitoring the heart and lungs. A team of specialists works together to help people live as independently as possible. Research into this condition is still in early stages, and clinical studies are ongoing.
Also known as:
Key symptoms:
Weakness in the hip and thigh muscles, making it hard to stand up or climb stairsWeakness in the shoulder and upper arm muscles, making it hard to lift arms overheadDifficulty walking or a waddling gaitFrequent falls or trouble with balanceMuscle wasting (muscles look smaller than normal)Fatigue with everyday physical activitiesHeart rhythm problems (arrhythmias)Heart muscle weakness (cardiomyopathy)Shortness of breath, especially during activity or when lying flatDifficulty swallowing in some casesMuscle cramps or stiffnessReduced exercise tolerance
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 BVES-related limb-girdle muscular dystrophy.
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Specialists
View all specialists →No specialists are currently listed for BVES-related limb-girdle muscular dystrophy.
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 BVES-related limb-girdle muscular dystrophy.
Community
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Start the conversation →Latest news about BVES-related limb-girdle muscular dystrophy
1 articlesCaregiver 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 specific tests do you recommend to monitor for arrhythmias or cardiomyopathy?,Should other family members be tested for the BVES gene change, even if they have no symptoms?,What physical activities are safe for me, and are there any I should avoid to protect my muscles or heart?,At what point would you recommend a pacemaker or defibrillator, and what are the warning signs I should watch for?,Are there any clinical trials or research studies I might be eligible to join?,What breathing tests should I have, and how will we know if I need breathing support in the future?,What community resources, patient registries, or support groups are available for people with limb-girdle muscular dystrophy?
Common questions about BVES-related limb-girdle muscular dystrophy
What is BVES-related limb-girdle muscular dystrophy?
BVES-related limb-girdle muscular dystrophy (also called LGMD R25 or LGMD2 BVES) is a rare inherited muscle disease caused by changes in the BVES gene. BVES stands for 'blood vessel epicardial substance,' and the protein it makes helps keep muscle cells healthy and connected. When this gene does not work properly, muscle fibers gradually break down, leading to progressive weakness mainly in the muscles around the hips, thighs, and shoulders — the 'limb-girdle' region of the body. People with this condition typically notice difficulty climbing stairs, rising from a chair, lifting their arms ov
How is BVES-related limb-girdle muscular dystrophy inherited?
BVES-related limb-girdle muscular dystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.