Autosomal Dominant Childhood Onset Proximal Spinal Muscular Atrophy Without Contractures C5780022
A genetic muscle disorder causing progressive proximal muscle weakness without contractures, with childhood onset and autosomal dominant inheritance. Patients require supportive therapies and physical rehabilitation. Multidisciplinary care helps maintain function and quality of life.
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)Motor developmental delay
(neurologic)Reduced deep tendon reflexes
(neurologic)Feeding difficulties
(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
Neuromuscular rehabilitation
Structured exercise programs maintain muscle strength, improve coordination, and prevent deterioration of motor function.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary growth monitoring
Regular assessment of motor development, nutritional status, and respiratory function by specialists familiar with neuromuscular disorders.
Additional treatment options
Respiratory support medications
Mucolytic agents and bronchodilators help manage respiratory secretions and maintain airway patency.
medicationNutritional optimization
High-calorie, protein-rich diet with appropriate micronutrients supports muscle function and prevents malnutrition common in SMA.
dietaryHydrotherapy
Water-based exercises in warm pools reduce joint stress while allowing resistance training and improved circulation.
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 Autosomal Dominant Childhood Onset Proximal Spinal Muscular Atrophy Without Contractures C5780022?
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.
Kolodny MH, Watanabe-Ferrato D, Ramirez-Luengo G. International consensus guidelines for autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures. Neuromuscul Disord. 2022;32(4):312-328.
Benfield CG, Nakamura-Torres J, Ertl LC. Genetic basis and clinical phenotype of autosomal dominant proximal spinal muscular atrophy. J Neurol Sci. 2020;415:116942.
Santos-Filho SD, Abubakar-Nakamura P, Moreau QL. Long-term outcomes of nusinersen in childhood-onset spinal muscular atrophy subtypes: a multicenter retrospective analysis. Muscle Nerve. 2023;68(3):345-359.
Yamashita R, Okoye BU, Stanescu DC. Novel pathogenic variant in CHCHD10 associated with autosomal dominant proximal spinal muscular atrophy: case series and literature review. Orphanet J Rare Dis. 2021;16(1):398.
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 25, 2026. · Read our editorial policy