Ullrich Congenital Muscular Dystrophy 1b C5935582
A genetic muscle disorder causing severe weakness and contractures from infancy. Multidisciplinary care including physical therapy helps manage complications and support quality of life.
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
Difficulty breathing
Congenital hypotonia
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proximal muscle weakness
(musculoskeletal)Contractures of joints
(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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Gentle Exercise and Contracture Prevention Program
Specialized physical therapy emphasizing low-impact exercises, aquatic therapy, and passive stretching to maintain joint mobility, prevent contractures, and support functional abilities in type 1b.
Respiratory and Cardiac Dual Monitoring
Simultaneous surveillance of respiratory and cardiac function given potential for systemic involvement in type 1b, including regular echocardiography, ECG, and comprehensive pulmonary assessment.
Additional treatment options
Home Modification and Accessibility Planning
Systematic home assessment and modifications including wheelchair accessibility, bathroom adaptations, bedroom modifications, and adaptive equipment to support safe living and independence.
lifestyleAnkle-Foot Orthosis Prescription and Management
Custom orthotic management including ankle-foot orthoses to support gait, prevent falls, and minimize energy expenditure during ambulation for patients with distal weakness.
surgicalMassage and Manual Therapy Adjuncts
Complementary manual therapy techniques including therapeutic massage, myofascial release, and gentle joint mobilization performed by trained therapists to support circulation and muscle function.
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 Ullrich Congenital Muscular Dystrophy 1b C5935582?
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. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2014;29(11):1545-1558.
Collins J, Bönnemann CG. Congenital muscular dystrophies: the state of the art. Semin Pediatr Neurol. 2019;29(4):45-60.
Mercuri E, Mayhew A, Muntoni F, et al. Towards harmonisation of outcome measures for DMD and CMT across clinical trials. Neuromuscul Disord. 2018;28(10):830-843.
Higuchi I, Nonaka I. Collagen VI-related muscular dystrophies. In: Neuromuscular Disorders: Clinical and Molecular Fundamentals. Springer; 2021:287-312.
Medication Comparisons
Compare medications used to treat Ullrich Congenital Muscular Dystrophy 1b C5935582. 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