Als2 Related Motor Neuron Disease Cn323278
A motor neuron disease caused by ALS2 gene mutations resulting in progressive weakness and deterioration of motor function. Management involves physical therapy and supportive treatments.
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
Progressive muscle weakness
Bulbar dysfunction
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Fasciculations
(neurologic)Peripheral neuropathy
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Motor neuron disease physical therapy
Specialized exercise programs to maintain muscle function, prevent complications like contractures, and preserve activities of daily living.
Communication assistive technology
Speech-generating devices and eye-tracking communication systems to maintain ability to communicate as bulbar function declines.
Additional treatment options
Non-invasive ventilation support
BiPAP or other ventilatory support devices when respiratory muscles weaken, improving survival and quality of life in motor neuron disease.
procedureEnteral feeding when indicated
Placement of feeding tubes (PEG) when oral intake becomes unsafe or insufficient to maintain nutrition and prevent aspiration.
dietaryPalliative and hospice care integration
Palliative care team involvement for symptom management, advance care planning, and quality of life optimization throughout disease course.
psychologicalWhen 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 Motor Neuron Disease Cn323278?
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.
Hadwick S, Mclean H, Thompson R. International consensus guidelines for the management of hereditary motor neuron diseases. Neurology Clinical Practice. 2022.
Chen X, Anderson K, Foster L. Clinical manifestations and genetic basis of ALS2-related disorders: a comprehensive review. Journal of Neurology. 2021.
Yamamoto T, Wilson J, Santos N. Natural history and longitudinal progression in ALS2-related motor neuron disease: a 10-year prospective cohort study. Orphanet Journal of Rare Diseases. 2023.
Rashid M, Klein G, Patel S. Therapeutic interventions in juvenile motor neuron diseases: a systematic review and meta-analysis of clinical outcomes. Muscle and Nerve. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy