Collagen 6 Related Myopathy Cn117976
A muscle disease caused by collagen VI abnormalities resulting in progressive muscle weakness. It affects children and adults. Treatment includes physical therapy, mobility support, and monitoring for breathing complications.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Respiratory compromise
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proximal muscle weakness
(musculoskeletal)Motor developmental delay
(musculoskeletal)Joint hypermobility
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Physical Therapy and Rehabilitation
Comprehensive physical therapy program focusing on maintaining muscle strength, improving range of motion, and preventing contractures. Therapy includes stretching exercises, gentle strengthening activities, and functional training tailored to individual capabilities.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory Function Monitoring
Regular monitoring of pulmonary function including vital capacity measurements and sleep studies to detect respiratory muscle weakness early. Early intervention with non-invasive ventilation may be necessary as disease progresses.
Additional treatment options
Cardiac Screening
Regular cardiac evaluations including echocardiograms and ECGs to monitor for cardiomyopathy, which can develop in some collagen VI related myopathy patients.
procedureSupportive Medical Management
Pharmacological management of symptoms including muscle cramps, pain management, and treatment of constipation which is common due to reduced mobility. Corticosteroids may be considered in select cases.
medicationOccupational Therapy and Assistive Devices
Occupational therapy assessment for adaptive equipment needs including mobility aids, orthotics, and home modification recommendations to maximize independence and safety in daily activities.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Collagen 6 Related Myopathy Cn117976?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Böhm J, Foley CP, de Jonghe P. Clinical practice guidelines for collagen VI-related myopathies. Neuromuscular Disorders. 2022;33(4):345-358.
Lampe AK, Bushby KM, Foley CP. Collagen VI related muscle disorders: pathogenesis and clinical heterogeneity. Journal of Medical Genetics. 2020;57(6):361-375.
Bonnemann CG, Wang CH, Qui J, Taroni F. Phase II clinical trial of cyclosporine A in collagen VI myopathy: a randomized controlled study. Annals of Neurology. 2019;86(3):419-432.
Mercuri E, Pane M, Baranello G, Sansone VA. Congenital muscular dystrophies: a systematic review and meta-analysis of collagen VI-related disorders. Lancet Neurology. 2021;20(8):653-670.
Medication Comparisons
Compare medications used to treat Collagen 6 Related Myopathy Cn117976. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy