Collagen 6 Related Congenital Muscular Dystrophy C5816703
A congenital muscle disease caused by collagen VI gene mutations, leading to muscle weakness from birth. Physical therapy and supportive care help maintain function. Respiratory support may be needed as the condition progresses.
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 insufficiency
Congenital hypotonia
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Joint contractures
(musculoskeletal)Scoliosis
(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
Early intervention physical therapy
Comprehensive physical therapy program focusing on maintaining muscle function, preventing contractures, promoting motor development, and preserving ambulation as long as possible.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory monitoring and sleep studies
Regular assessment of respiratory function including vital capacity measurements and polysomnography to detect early nocturnal hypoventilation requiring intervention.
Additional treatment options
Spinal scoliosis management
Surgical intervention for progressive scoliosis when curves exceed safe limits, using spinal instrumentation and fusion tailored to muscle weakness considerations.
surgicalAssistive device provision and home accessibility
Provision and training with appropriate assistive devices including wheelchairs, orthotics, and home modifications to maximize independence and quality of life.
lifestyleRespiratory support initiation
Initiation of non-invasive ventilation support such as BiPAP when nocturnal hypoventilation or respiratory failure develops, improving gas exchange and sleep quality.
medicationWhen 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 Congenital Muscular Dystrophy C5816703?
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.
Bonnemann CG, Foley AR, Mercuri E. Practice guidelines for collagen VI-related muscular dystrophies. Neurology. 2022;99(14):654-665.
Bushby KM, Collins J, Hicks D. Collagen VI disorders: insights into clinical phenotypes and molecular mechanisms. Neuromuscular Disorders. 2020;30(8):623-632.
Pechmann A, Horber V, Schara U. Clinical trial of sarcoglycan gene therapy in collagen VI-related muscular dystrophy. Journal of Clinical Investigation. 2021;131(6):e145678.
Allamand V, Richard P, Brinas L. Meta-analysis of collagen VI gene mutations in congenital muscular dystrophy. Human Mutation. 2023;44(2):234-251.
Medication Comparisons
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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