Spinal Muscular Atrophy I Cn381124
A genetic neuromuscular disorder causing severe muscle weakness and loss of motor neurons from infancy. Infants have trouble breathing, swallowing, and moving. Historically fatal in early childhood, though newer therapies are changing outcomes.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Respiratory insufficiency requiring ventilatory support
Feeding difficulties due to bulbar weakness
Profound hypotonia
(neurologic)Absent deep tendon reflexes
(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
Disease-modifying pharmacotherapy
Specialized medications that target the underlying genetic cause to increase survival motor neuron protein production. Treatment typically initiated as early as possible for best outcomes.
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Respiratory function monitoring
Regular assessment of respiratory capacity including vital capacity measurements and blood gas analysis. Early identification of respiratory decline allows for timely intervention.
Additional treatment options
Chest physiotherapy and respiratory support
Techniques to maintain chest wall mobility, assist with secretion clearance, and support breathing function. Includes positioning and manual techniques.
physical_therapyNutritional support and feeding assessment
Evaluation of nutritional status and feeding abilities with consideration for swallowing difficulties. May include modified textures or supplemental feeding approaches.
dietaryRespiratory support device management
Non-invasive ventilation support to assist with breathing, typically initiated when respiratory function declines. Equipment selection and settings individualized.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Spinal Muscular Atrophy I Cn381124?
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.
Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1. Neuromuscul Disord. 2018.
Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017.
Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011.
Schoenmakers D, Scheepers H, Bhatt S, et al. Gene replacement therapy for spinal muscular atrophy: a systematic review and meta-analysis. Lancet Neurol. 2023.
Medication Comparisons
Compare medications used to treat Spinal Muscular Atrophy I Cn381124. 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