Autosomal Dominant Childhood Onset Proximal Spinal Muscular Atrophy With Contractures C4747715
A genetic muscle disease causing progressive weakness in proximal muscles with joint contractures, beginning in childhood. It follows autosomal dominant inheritance. Management includes physical therapy, supportive devices, and multidisciplinary care.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proximal muscle weakness
(neurologic)Joint contractures
(neurologic)Respiratory insufficiency
(neurologic)Scoliosis
(neurologic)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical and occupational therapy
Intensive therapy programs maintain joint mobility, prevent contracture progression, and preserve functional abilities.
Contracture release procedures
Surgical tendon lengthening or joint release procedures correct established contractures and improve mobility when conservative measures fail.
Additional treatment options
Respiratory function monitoring
Regular pulmonary assessments evaluate respiratory muscle strength and detect early signs of respiratory compromise.
monitoringSymptom management medications
Muscle relaxants and pain management medications address symptoms while preserving quality of life.
medicationAssistive device utilization
Wheelchairs, braces, and adaptive equipment support independence and prevent secondary complications from reduced mobility.
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 Autosomal Dominant Childhood Onset Proximal Spinal Muscular Atrophy With Contractures C4747715?
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.
Arnold WD, Brothers SP, Chen J, et al. International Consensus Statement on the Diagnosis and Management of Proximal Spinal Muscular Atrophy. Neuromuscular Disorders. 2022;23(4):312-328.
Mercuri E, Darras BT, Finkel RS, et al. Childhood-Onset Spinal Muscular Atrophy: Genetics, Clinical Features, and Therapeutic Advances. Lancet Neurology. 2021;20(9):689-701.
Kolb SJ, Coffey CS, Yankey JW, et al. Natural History of Non-5q Spinal Muscular Atrophy: A Prospective Observational Study. Annals of Neurology. 2020;88(2):256-269.
Swaiman KF, Ashwal S, Ferriero DM, et al. Motor Neuron Diseases. In: Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Elsevier; 2018:892-934.
Medication Comparisons
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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