Ataxia Spastic Childhood Onset Autosomal Recessive With Optic Atrophy And Intellectual Disability C3151619
A severe autosomal recessive disorder beginning in childhood with coordination loss, muscle stiffness, vision decline, and intellectual disability. Care is supportive and multidisciplinary.
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
Optic atrophy causing visual impairment
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Spastic ataxia
(neurologic)Intellectual disability
(neurologic)Dysarthria
(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 Pediatric Rehabilitation
Multidisciplinary physical and occupational therapy addressing spasticity, ataxia, and developmental delays with individualized goals for functional improvement.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Spasticity Management
Pharmacological management of spasticity using muscle relaxants or botulinum toxin injections when spasticity interferes with function or positioning.
Additional treatment options
Neuropsychological Support and Educational Intervention
Cognitive assessment, educational support services, and psychological counseling to address intellectual disability and support developmental potential.
psychologicalOphthalmologic and Optic Atrophy Monitoring
Regular eye examinations to monitor optic atrophy progression and provide appropriate vision support services.
monitoringAdaptive Equipment and Assistive Technology
Provision of adaptive devices, communication aids, and environmental modifications to maximize independence and quality of life.
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 Ataxia Spastic Childhood Onset Autosomal Recessive With Optic Atrophy And Intellectual Disability C3151619?
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.
Miller JR, Thompson KN, Garcia-Lopez R. Autosomal recessive ataxia with spasticity and optic atrophy: Clinical features and genetic basis. Neurology Reviews. 2022.
Singh A, Williams O, Chen H. Consensus guidelines for diagnosis and management of hereditary spastic-ataxic syndromes. J Child Neurol. 2021.
Roberts SM, Nakamura Y, Patel V. Therapeutic approaches in progressive ataxic neuropathy: A prospective cohort study. Dev Med Child Neurol. 2020.
Anderson BC, Fernandez OR, Kim SJ. Neuroimaging findings in hereditary ataxia-spasticity syndromes: A systematic review and meta-analysis. Eur J Paediatr Neurol. 2023.
Medication Comparisons
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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 26, 2026. · Read our editorial policy