Ullrich Congenital Muscular Dystrophy 1a 1b Digenic C5935566
A rare inherited muscle disease where variations in two genes may both contribute to muscle weakness present at birth. Care focuses on supportive therapies and maintaining function.
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 muscle weakness
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe generalized weakness
(musculoskeletal)Motor delays
(musculoskeletal)Severe proximal 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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Physical Rehabilitation Program
Multidisciplinary physical therapy addressing the combined manifestations of digenic inheritance with focus on contracture prevention, strength preservation, and functional mobility through individualized exercise protocols.
Enhanced Respiratory Monitoring Protocol
Intensified respiratory surveillance due to potentially more severe phenotype in digenic cases, including baselinepolysomnography, serial pulmonary function tests, and proactive non-invasive ventilation planning.
Additional treatment options
Multilevel Orthopedic Intervention
Coordinated surgical approach addressing lower extremity contractures, hip dysplasia, and spinal deformity through procedures such as tendon lengthening, hip reconstruction, and spinal instrumentation as indicated.
surgicalPsychological Support and Family Counseling
Comprehensive psychological services including counseling, behavioral support, and family therapy to address the challenges of managing a complex rare disease with potential for significant disability.
psychologicalAssistive Device Provision and Mobility Aids
Systematic assessment and provision of appropriate mobility aids including specialized wheelchairs, standing frames, orthoses, and adaptive equipment to maximize independence and prevent secondary complications.
procedureWhen 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 1b Digenic C5935566?
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, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neurology. 2020;95(12):e1752-e1765.
Mercuri E, Böhm F, Pane M, et al. Collagen VI related muscle disorders. J Neuromuscul Dis. 2022;9(2):153-169.
Foley AR, Menezes MP, Pane M, et al. Genotype-phenotype correlations in collagen VI-related myopathies: a multi-center study. Brain. 2021;144(8):2314-2330.
Quijano-Roy S, Kergourlay I, Clément A, et al. Respiratory management in congenital muscular dystrophies. Neuromuscul Disord. 2019;29(11):815-829.
Medication Comparisons
Compare medications used to treat Ullrich Congenital Muscular Dystrophy 1a 1b Digenic C5935566. 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