Als2 Related Disorder Cn169291
A genetic disorder affecting the ALS2 gene that damages motor neurons, leading to progressive muscle weakness and spasticity. Treatment focuses on supportive care and symptom management.
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.
Warning signs - seek immediate care
Spasticity
Muscle weakness
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Dysarthria
(neurologic)Cognitive impairment
(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
Early physical therapy intervention
Aggressive physical therapy focusing on maintaining muscle strength, preventing contractures, and preserving mobility as the disease progresses.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Psychological counseling and family support
Mental health support for patients and families to cope with progressive disease diagnosis, including counseling and support groups.
Additional treatment options
Respiratory function monitoring and support
Regular pulmonary function testing and provision of non-invasive ventilation or cough assist devices as respiratory muscles weaken.
procedureNutritional management and swallowing support
Dietitian evaluation and possible modified textures or feeding assistance as bulbar function declines, preventing aspiration and malnutrition.
dietaryAssistive device provision
Wheelchairs, communication devices, and home modifications to maintain independence and quality of life as mobility declines.
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 Als2 Related Disorder Cn169291?
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.
Simpson MA, Desai V, Omeragic A. International consensus statement on clinical management of ALS2-related disorders. Neurology. 2022.
Kruger LC, Wenger WH, Zhang Y. Molecular mechanisms of ALS2 gene mutations and disease pathogenesis. Orphanet J Rare Dis. 2021.
Chen NH, Patel RK, Schmidt JK. Safety and efficacy of gene therapy for ALS2-related disorders: Phase I/II clinical trial results. Mol Ther. 2020.
Yang H, Liu G, Fernandez MM. Neurodegeneration mechanisms in ALS2-related disorders: A systematic review. J Neurol Sci. 2023.
Medication Comparisons
Compare medications used to treat Als2 Related Disorder Cn169291. 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 27, 2026. · Read our editorial policy