Overview
Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C), also known as caveolinopathy or caveolin-3 deficiency, is a rare inherited muscle disease. It belongs to a group of conditions called limb-girdle muscular dystrophies, which mainly affect the muscles closest to the body — the hips, thighs, shoulders, and upper arms. In LGMD1C, a problem in the CAV3 gene causes a shortage of a protein called caveolin-3, which is essential for keeping muscle cells healthy and working properly. The main symptoms include muscle weakness and wasting in the hip and shoulder areas, muscle cramps, and sometimes an unusual rippling movement of the muscles that can be triggered by touch or exercise — a feature called rippling muscle disease. Some people also have mildly elevated levels of a muscle enzyme called creatine kinase in their blood, which signals muscle damage. Symptoms usually begin in childhood or early adulthood, though the age of onset can vary. There is currently no cure for LGMD1C. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring for complications. With the right support, many people with LGMD1C can maintain a good quality of life, though the disease can slowly progress over time. Genetic counseling is strongly recommended for affected individuals and their families.
Key symptoms:
Muscle weakness in the hips and thighsMuscle weakness in the shoulders and upper armsMuscle cramps, especially during or after exerciseRippling or wave-like movements of the muscles when touched or after exerciseMuscle stiffnessDifficulty climbing stairs or rising from a chairTrouble lifting arms above the headMild to moderately elevated creatine kinase (a blood marker of muscle damage)Muscle wasting over timeExercise intolerance or easy fatigue with physical activity
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant limb-girdle muscular dystrophy type 1C.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal dominant limb-girdle muscular dystrophy type 1C at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Autosomal dominant limb-girdle muscular dystrophy type 1C.
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 1C.
Community
No community posts yet. Be the first to share your experience with Autosomal dominant limb-girdle muscular dystrophy type 1C.
Start the conversation →Latest news about Autosomal dominant limb-girdle muscular dystrophy type 1C
No recent news articles for Autosomal dominant limb-girdle muscular dystrophy type 1C.
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.What genetic test should I have, and will my family members need testing too?,How quickly might my muscle weakness progress, and what signs should I watch for?,What type and amount of exercise is safe for me, and what should I avoid?,Should I have my heart checked regularly, and how often?,Are there any medications or supplements I should avoid because they could harm my muscles?,What physical therapy or rehabilitation program would you recommend for me?,Are there any clinical trials or research studies I might be eligible to join?
Common questions about Autosomal dominant limb-girdle muscular dystrophy type 1C
What is Autosomal dominant limb-girdle muscular dystrophy type 1C?
Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C), also known as caveolinopathy or caveolin-3 deficiency, is a rare inherited muscle disease. It belongs to a group of conditions called limb-girdle muscular dystrophies, which mainly affect the muscles closest to the body — the hips, thighs, shoulders, and upper arms. In LGMD1C, a problem in the CAV3 gene causes a shortage of a protein called caveolin-3, which is essential for keeping muscle cells healthy and working properly. The main symptoms include muscle weakness and wasting in the hip and shoulder areas, muscle cramps, an
How is Autosomal dominant limb-girdle muscular dystrophy type 1C inherited?
Autosomal dominant limb-girdle muscular dystrophy type 1C follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.