Overview
Calpain-3-related limb-girdle muscular dystrophy D4, also known as LGMD D4 or autosomal dominant calpainopathy, is a rare inherited muscle disease caused by changes in the CAPN3 gene. This gene provides instructions for making a protein called calpain-3, which plays an important role in keeping muscle fibers healthy and working properly. When this protein does not function correctly, muscle fibers gradually break down over time. This condition mainly affects the muscles closest to the center of the body — the hips, thighs, shoulders, and upper arms. These are called the 'limb-girdle' muscles. People with LGMD D4 typically notice slowly worsening muscle weakness and wasting in these areas, which can make everyday activities like climbing stairs, lifting objects, or getting up from a chair increasingly difficult. Unlike the more common recessive form of calpainopathy (LGMD R1), LGMD D4 is caused by a dominant mutation, meaning only one changed copy of the gene is enough to cause the disease. There is currently no cure for LGMD D4. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring for complications. A team of specialists including neurologists, physiotherapists, and cardiologists typically work together to support people living with this condition.
Also known as:
Key symptoms:
Weakness in the hip and thigh musclesWeakness in the shoulder and upper arm musclesDifficulty climbing stairs or rising from a chairTrouble lifting arms above the headGradual wasting (shrinking) of affected musclesWaddling or unusual walking patternFatigue with physical activityDifficulty running or keeping up with peersPossible mild calf muscle enlargement in some casesReduced ability to perform overhead tasks
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 Calpain-3-related limb-girdle muscular dystrophy D4.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Calpain-3-related limb-girdle muscular dystrophy D4 at this time.
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Specialists
View all specialists →No specialists are currently listed for Calpain-3-related limb-girdle muscular dystrophy D4.
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 Calpain-3-related limb-girdle muscular dystrophy D4.
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.What specific mutation do I have in the CAPN3 gene, and what does that mean for my prognosis?,How quickly is my condition likely to progress, and what signs should I watch for?,Should my family members be tested for this condition?,What type of exercise or physical therapy is safe and beneficial for me?,Do I need regular heart or lung monitoring, and how often?,Are there any clinical trials I might be eligible for?,What assistive devices or home modifications might help me now or in the future?
Common questions about Calpain-3-related limb-girdle muscular dystrophy D4
What is Calpain-3-related limb-girdle muscular dystrophy D4?
Calpain-3-related limb-girdle muscular dystrophy D4, also known as LGMD D4 or autosomal dominant calpainopathy, is a rare inherited muscle disease caused by changes in the CAPN3 gene. This gene provides instructions for making a protein called calpain-3, which plays an important role in keeping muscle fibers healthy and working properly. When this protein does not function correctly, muscle fibers gradually break down over time. This condition mainly affects the muscles closest to the center of the body — the hips, thighs, shoulders, and upper arms. These are called the 'limb-girdle' muscles.
How is Calpain-3-related limb-girdle muscular dystrophy D4 inherited?
Calpain-3-related limb-girdle muscular dystrophy D4 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Calpain-3-related limb-girdle muscular dystrophy D4 typically begin?
Typical onset of Calpain-3-related limb-girdle muscular dystrophy D4 is adult. Age of onset can vary across affected individuals.