Spinal Muscular Atrophy Distal Autosomal Recessive 6 C5774201
A genetic neuromuscular disorder causing muscle weakness and wasting, usually beginning in infancy or early childhood. It is inherited in an autosomal recessive pattern. Treatment focuses on supportive care, physical therapy, and newer gene-targeted therapies.
Key facts at a glance
- ICD-10
- G12.9
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Respiratory insufficiency
Distal muscle weakness
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Motor regression
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Disease-Modifying Gene Therapy
SMN2 splicing modifiers such as nusinersen or risdiplam increase functional SMN protein production. These FDA-approved therapies target the underlying genetic defect and represent the standard of care for eligible SMA patients.
Multidisciplinary Physical and Occupational Therapy
Ongoing PT/OT focusing on strength preservation, range of motion, functional mobility, and ADL independence. Therapy adapts to disease stage with emphasis on maintaining abilities rather than restoring lost function.
Additional treatment options
Respiratory Management and Support
Proactive respiratory care including cough assist devices, airway clearance techniques, and nocturnal non-invasive ventilation as needed. Pulmonary function monitoring guides timing of intervention.
procedureOrthopedic Intervention
Surgical management of scoliosis, hip subluxation, or contractures when conservative measures fail. Spinal fusion may be required for progressive curves exceeding 50 degrees. Timing of surgery balances pulmonary function.
surgicalNutritional Support and Dysphagia Management
Registered dietitian evaluation for weight maintenance, vitamin supplementation, and dysphagia management. Modified food textures or gastrostomy tube feeding may be necessary as bulbar function declines.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Spinal Muscular Atrophy Distal Autosomal Recessive 6 C5774201?
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: recommendations of the SPMA Care Group. Neuromuscul Disord. 2021.
Arnold WD, Burghes AH. Spinal muscular atrophy: pathogenesis and treatment. Curr Neurol Neurosci Rep. 2020.
Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017.
Schoenmakers D, Scheuermann Y, Goh C, et al. Gene therapy for spinal muscular atrophy: a systematic review and meta-analysis. Mol Ther Methods Clin Dev. 2023.
Medication Comparisons
Compare medications used to treat Spinal Muscular Atrophy Distal Autosomal Recessive 6 C5774201. 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