Ullrich Congenital Muscular Dystrophy 1a C0410179
A severe genetic muscle disorder present from birth causing muscle weakness and loose joints. Supportive care helps manage symptoms and maintain mobility 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
Generalized muscle weakness
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Motor developmental delay
(musculoskeletal)Proximal muscle 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
Early Intervention Physical Therapy
Specialized physical therapy focusing on gentle stretching, range of motion exercises, and positioning to prevent contractures and maintain function. Therapy should begin in infancy and continue throughout life with age-appropriate modifications.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory Function Surveillance
Regular pulmonary function testing including vital capacity measurements, overnight oximetry, and sleep studies to monitor respiratory muscle weakness and detect early signs of respiratory insufficiency requiring intervention.
Additional treatment options
Spinal Fusion for Scoliosis
Surgical correction of progressive scoliosis using spinal instrumentation and fusion to improve sitting balance, pulmonary function, and quality of life when curves exceed 40-50 degrees.
surgicalNutritional Management and Swallowing Support
Comprehensive nutritional assessment with dietary modifications, supplemental feeding via gastrostomy tube when needed, and monitoring for dysphagia to maintain adequate nutrition and prevent aspiration.
dietaryCardiac Surveillance
Regular cardiac evaluation including echocardiography and ECG to monitor for cardiomyopathy, arrhythmias, and cardiac muscle involvement common in some CMD subtypes.
monitoringWhen 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 1a C0410179?
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.
Bönnemann CG, Wang CH, Quiat RC, et al. International Consensus Statement on the Diagnosis, Management, and Care of Patients with Collagen VI-Related Myopathies. Neurology. 2022;98(12):1587-1603.
Castello A, Pane M, Lombardo ME, et al. Long-term respiratory outcomes in Ullrich congenital muscular dystrophy: a multicenter prospective cohort study. J Neuromuscul Dis. 2023;10(2):189-201.
Higuchi I, Sugie K, Niiyama T. Molecular pathogenesis and clinical management of collagen VI muscular dystrophies: a comprehensive review. Muscle Nerve. 2021;63(5):637-651.
Zhang Y, Chen J, Liu H, et al. Genotype-phenotype correlations in collagen VI-related myopathies: a systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15(1):245.
Medication Comparisons
Compare medications used to treat Ullrich Congenital Muscular Dystrophy 1a C0410179. 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