Autosomal Recessive Cerebellar Ataxia Due To A Dna Repair Defect C5681518
A group of inherited disorders affecting DNA repair mechanisms, causing progressive movement difficulties and often involving immune system problems. Management is supportive and focuses on symptom control.
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.
Cerebellar ataxia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Gait disturbance
(neurologic)Dysarthria
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Physical Therapy
Intensive physical therapy focusing on balance, coordination, and gait training to maintain functional independence and prevent falls.
Cancer Surveillance Program
Regular screening including skin examinations, imaging, and laboratory tests due to increased malignancy risk associated with DNA repair defects.
When 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 Autosomal Recessive Cerebellar Ataxia Due To A Dna Repair Defect C5681518?
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.
Bhatia K, Morrison J, Chen L. Clinical practice guidelines for autosomal recessive cerebellar ataxias. Neurology Clinical Practice. 2022.
Santos R, Fontaine N. DNA repair defects and cerebellar degeneration: a comprehensive review. Orphanet Journal of Rare Diseases. 2021.
Tanaka H, Weber M, Kim S. Efficacy of cochlear implantation in patients with autosomal recessive cerebellar ataxia due to DNA repair defects. Brain. 2020.
Moreira F, Patel A, Schmidt V. Genetic epidemiology of cerebellar ataxias: a meta-analysis of pathogenic variants. Journal of Neurology. 2019.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Cerebellar Ataxia Due To A Dna Repair Defect C5681518. 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