Overview
Telethonin-related limb-girdle muscular dystrophy R7, also known as LGMD R7 or LGMD2G, is a rare inherited muscle disease caused by changes (mutations) in the TCAP gene. This gene provides instructions for making a protein called telethonin (also called T-cap), which plays an important role in keeping muscle fibers strong and stable. When telethonin does not work properly, muscle fibers gradually break down over time. This condition mainly affects the muscles around the hips, thighs, and shoulders — the so-called 'limb-girdle' muscles. People with LGMD R7 typically notice weakness in their legs first, which can make walking, climbing stairs, and getting up from a chair increasingly difficult. Weakness in the shoulder and upper arm muscles may also develop. Some people experience mild heart muscle involvement (cardiomyopathy), so heart monitoring is an important part of care. There is currently no cure for LGMD R7. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring for complications such as heart or breathing problems. A team of specialists works together to help people with this condition live as independently and comfortably as possible. Early diagnosis is important so that the right monitoring and support can be put in place.
Also known as:
Key symptoms:
Weakness in the hip and thigh musclesDifficulty walking or a waddling gaitTrouble climbing stairs or rising from a seated positionWeakness in the shoulder and upper arm musclesMuscle wasting (loss of muscle bulk) in the legs and hipsMild weakness in the lower leg and foot musclesElevated creatine kinase (CK) levels in the blood, indicating muscle damageMild heart muscle weakness (cardiomyopathy) in some peopleFatigue with physical activityPossible difficulty running or keeping up with peers
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Telethonin-related limb-girdle muscular dystrophy R7.
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Specialists
View all specialists →No specialists are currently listed for Telethonin-related limb-girdle muscular dystrophy R7.
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 Telethonin-related limb-girdle muscular dystrophy R7.
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 TCAP gene, and what does that mean for how my disease might progress?,How often should I have my heart checked, and what signs of heart problems should I watch for at home?,What type of physical therapy is most appropriate for me, and are there exercises I should avoid?,Should my family members be tested for this condition, and what are the chances my children could be affected?,Are there any clinical trials or research studies I might be eligible to join?,What mobility aids or home adaptations should I consider now or plan for in the future?,Who should I contact if my symptoms worsen quickly or I have a breathing or heart emergency?
Common questions about Telethonin-related limb-girdle muscular dystrophy R7
What is Telethonin-related limb-girdle muscular dystrophy R7?
Telethonin-related limb-girdle muscular dystrophy R7, also known as LGMD R7 or LGMD2G, is a rare inherited muscle disease caused by changes (mutations) in the TCAP gene. This gene provides instructions for making a protein called telethonin (also called T-cap), which plays an important role in keeping muscle fibers strong and stable. When telethonin does not work properly, muscle fibers gradually break down over time. This condition mainly affects the muscles around the hips, thighs, and shoulders — the so-called 'limb-girdle' muscles. People with LGMD R7 typically notice weakness in their le
How is Telethonin-related limb-girdle muscular dystrophy R7 inherited?
Telethonin-related limb-girdle muscular dystrophy R7 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Telethonin-related limb-girdle muscular dystrophy R7 typically begin?
Typical onset of Telethonin-related limb-girdle muscular dystrophy R7 is juvenile. Age of onset can vary across affected individuals.