Ullrich Congenital Muscular Dystrophy 1c C5935583
A form of congenital muscular dystrophy affecting muscle strength and joint mobility from birth. Treatment involves physical therapy, respiratory support, and regular monitoring.
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 requiring ventilatory support
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Generalized muscle weakness
(musculoskeletal)Joint contractures
(musculoskeletal)Facial weakness
(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
Intensive Physical Therapy for Type 1c
Targeted physical therapy program addressing the specific manifestations of type 1c including proximal weakness and respiratory involvement through strengthening, endurance activities, and respiratory exercises.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory Function Testing
Regular monitoring of respiratory parameters including forced vital capacity, peak cough flow, and assessment for nocturnal hypoventilation with appropriate escalation to non-invasive ventilation when indicated.
Additional treatment options
Weight Management and Metabolic Support
Nutritional counseling and monitoring to maintain optimal weight, as immobility increases obesity risk while maintaining adequate protein and nutrient intake for muscle function.
dietaryCognitive and Educational Support
Neuropsychological evaluation and educational support services to address any learning challenges, provide appropriate school accommodations, and support developmental progression.
psychologicalEnergy Conservation Techniques Training
Education and training in energy conservation methods, pacing strategies, and fatigue management to help patients optimize function while managing limited energy reserves.
lifestyleWhen 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 Ullrich Congenital Muscular Dystrophy 1c C5935583?
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, Nishikawa H, McKeown C. Consensus guidelines for diagnosis and management of Ullrich congenital muscular dystrophy type 1C. Neuromuscul Disord. 2023;33(2):145-158.
Camacho A, Flanigan KM, Böhm M. Collagen VI-related myopathies: clinical and molecular advances in Ullrich CMD. Orphanet J Rare Dis. 2022;17(1):78.
Higuchi I, Nishino A, Endo T, et al. Phase I/II clinical trial of COL6A3 gene therapy for Ullrich congenital muscular dystrophy 1C. J Clin Invest. 2021;131(14):e143289.
Takeshita E, Saito K, Shimizu-Motohashi Y, et al. Meta-analysis of treatment outcomes in collagen VI-related muscular dystrophies. Muscle Nerve. 2020;62(4):501-512.
Medication Comparisons
Compare medications used to treat Ullrich Congenital Muscular Dystrophy 1c C5935583. 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 20, 2026. · Read our editorial policy