Overview
Non-dystrophic myopathy with collagen 6 anomaly is a rare muscle condition that was previously recognized as a separate disease entry but has since been reclassified (marked as 'obsolete' in medical databases). This condition falls within the spectrum of collagen VI-related myopathies, which are a group of muscle disorders caused by problems with collagen type VI, an important structural protein found in the connective tissue surrounding muscles. When collagen VI does not work properly, muscles become weak and joints may become stiff or overly flexible. The term 'non-dystrophic' was used to distinguish this form from the more classic dystrophic patterns seen in conditions like Bethlem myopathy and Ullrich congenital muscular dystrophy. Patients with this condition typically experience muscle weakness, joint contractures (tightness), and sometimes skin changes. The severity can vary widely from person to person. Because this entry is now obsolete, patients previously diagnosed with this condition are generally reclassified under the broader umbrella of collagen VI-related myopathies. There is currently no cure for these conditions, and treatment focuses on managing symptoms through physical therapy, respiratory support when needed, and orthopedic interventions. Ongoing research into collagen VI disorders continues to improve understanding and may lead to new therapies in the future.
Key symptoms:
Muscle weaknessJoint stiffness or contracturesOverly flexible joints in some areasDifficulty walking or runningSkin that feels unusually soft or stretchyBreathing difficulties, especially at nightSlow motor development in childrenDifficulty climbing stairsSpine stiffness or scoliosisFatigue during physical activityReduced muscle bulk
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly.
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Specialists
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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 OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 type of collagen VI-related myopathy does my diagnosis fall under now that this category is obsolete?,What genetic testing has been done, and what were the specific results?,How often should lung function be tested?,What physical therapy program is recommended to maintain mobility?,Are there any clinical trials or research studies I could participate in?,What signs should I watch for that would indicate the condition is getting worse?,Should family members be tested for the same genetic changes?
Common questions about OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly
What is OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly?
Non-dystrophic myopathy with collagen 6 anomaly is a rare muscle condition that was previously recognized as a separate disease entry but has since been reclassified (marked as 'obsolete' in medical databases). This condition falls within the spectrum of collagen VI-related myopathies, which are a group of muscle disorders caused by problems with collagen type VI, an important structural protein found in the connective tissue surrounding muscles. When collagen VI does not work properly, muscles become weak and joints may become stiff or overly flexible. The term 'non-dystrophic' was used to d