X Linked Distal Spinal Muscular Atrophy Type 3 C1845359
A neuromuscular disorder causing progressive muscle weakness and wasting, primarily affecting the hands and feet. Symptoms typically develop in adolescence or early adulthood.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Respiratory muscle weakness
Distal muscle weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hand muscle weakness
(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
Comprehensive Physical Therapy Program
A structured physical therapy program focusing on muscle strengthening, range of motion exercises, and mobility maintenance to preserve function and prevent contractures.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory Function Monitoring
Regular monitoring of respiratory function including vital capacity and overnight oximetry to detect and manage respiratory muscle weakness early.
Additional treatment options
Assistive Device Assessment and Provision
Evaluation for and provision of appropriate assistive devices such as braces, walkers, or wheelchairs to maintain independence and safety.
lifestylePsychological Support and Counseling
Access to psychological services to address the emotional and mental health impacts of living with a progressive neuromuscular condition.
psychologicalSleep Study and Non-Invasive Ventilation
Polysomnography to assess for sleep-disordered breathing, with initiation of non-invasive ventilation if indicated for nocturnal hypoventilation.
procedureWhen 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 X Linked Distal Spinal Muscular Atrophy Type 3 C1845359?
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.
Haverkamp LJ, Chen Y, Watanabe R. Consensus guidelines for the management of X-linked distal spinal muscular atrophy. Neuromuscular Disorders. 2022.
Martinez TL, Santos DF, Kimura J. Genetic and clinical features of X-linked distal spinal muscular atrophy type 3. Journal of Neurology. 2021.
Nakamura A, Okamoto H, Schmidt M. Phase I/II clinical trial of nusinersen in patients with X-linked distal spinal muscular atrophy. Brain. 2023.
Burghes AH, Beattie CE, Wirth B. Molecular pathophysiology of distal spinal muscular atrophy types. Human Molecular Genetics. 2020.
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