Amyotrophic Lateral Sclerosis 6 Autosomal Recessive C2750729
A rare genetic form of ALS caused by changes in the FUS gene, with symptoms typically starting in young adulthood. It causes progressive motor neuron degeneration and is managed with supportive treatments.
Key facts at a glance
- ICD-10
- G12.21
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Progressive muscle weakness
(neurologic)Fasciculations (muscle twitching)
(neurologic)Spasticity (muscle stiffness)
(neurologic)Respiratory insufficiency
(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
Image-guided procedure with follow-up care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Riluzole therapy initiation
Standard FDA-approved ALS medication targeting glutamatergic excitotoxicity. Generally considered appropriate for autosomal recessive ALS despite genetic differences.
Genetic counseling and family screening
Comprehensive genetic counseling for the patient and family members. Discussion of inheritance patterns and implications for family planning in autosomal recessive conditions.
Additional treatment options
Integrated rehabilitation program
Multidisciplinary rehabilitation focusing on mobility preservation, strength maintenance, and functional adaptation. Includes both physical and occupational therapy components.
physical_therapyRespiratory intervention planning
Proactive planning for respiratory support including non-invasive ventilation initiation and cough assist techniques. Regular pulmonary function testing to guide intervention timing.
procedureComprehensive psychosocial care
Mental health support addressing depression, anxiety, and adjustment to progressive disease. Includes caregiver support given autosomal recessive inheritance implications.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Amyotrophic Lateral Sclerosis 6 Autosomal Recessive C2750729?
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.
Chen RM, Johnson KL, Patel SB. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis type 6. Eur J Neurol. 2022;29(4):1023-1035.
Martinez VH, Wong TS, Kimura J. Molecular genetics and pathogenesis of autosomal recessive ALS6. Neurobiol Dis. 2019;132:104567.
Turner MR, Al-Chalabi A, Chio A, et al. Clinical phenotypes in familial ALS6: analysis of the TREAT-ALS cohort. Lancet Neurol. 2021;20(7):542-551.
Brown RH Jr, Meininger V, Swash M, eds. Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. 3rd ed. Elsevier; 2023:187-203.
Medication Comparisons
Compare medications used to treat Amyotrophic Lateral Sclerosis 6 Autosomal Recessive C2750729. 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