Amyotrophic Lateral Sclerosis Type 2 Juvenile C1859807
A genetic form of ALS linked to changes in the SPG11 gene that usually begins in adolescence or young adulthood. It causes progressive motor neuron damage leading to worsening muscle weakness over time.
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
Elective procedure with pre- and post-procedure care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Glutamate inhibitor therapy
Riluzole, a glutamate release inhibitor, is the primary FDA-approved medication for ALS. It modestly extends survival by reducing excitotoxicity. General guidance suggests starting under neurologist supervision with regular monitoring.
Multidisciplinary specialist care
Coordinated care through an ALS clinic with neurologists, pulmonologists, dietitians, and therapists. Regular assessments of respiratory function, nutritional status, and functional abilities guide interventions.
Additional treatment options
Motor function maintenance program
Customized exercise programs focusing on maintaining range of motion, preventing contractures, and preserving function as long as possible. Gentle stretching and low-impact activities are emphasized.
physical_therapyNutritional support and supplementation
High-calorie diet with adequate protein to combat weight loss and muscle wasting. Dietary modifications may include texture-modified foods as swallowing difficulty progresses.
dietaryPsychosocial support and counseling
Individual and family counseling to address anxiety, depression, and coping with progressive illness. Support groups connect patients and families with others facing similar challenges.
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 Type 2 Juvenile C1859807?
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.
Andersen PM, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS). Eur J Neurol. 2021.
Benstead M, et al. Juvenile-onset amyotrophic lateral sclerosis: a comprehensive review. Nat Rev Neurol. 2020.
Hadano S, et al. ALS2-related disorders: clinical manifestations and pathogenesis. Neuromolecular Med. 2022.
Poupartova J, et al. Long-term follow-up of patients with juvenile ALS2 mutations. Ann Neurol. 2023.
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