Ataxia Telangiectasia Without Immunodeficiency C4017102
A genetic form of ataxia resembling classic ataxia telangiectasia but without the immune system problems. It causes coordination difficulties and increased sensitivity to radiation, requiring careful monitoring.
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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Progressive gait ataxia
(neurologic)Oculomotor apraxia
(neurologic)Dysarthria
(neurologic)Conjunctival telangiectasia
(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.
Intensive Physical Therapy Program
Individualized physical therapy focusing on balance training, gait stabilization, and coordination exercises to maintain motor function and prevent contractures.
Vitamin E and Coenzyme Q10 Supplementation
Antioxidant supplementation may help reduce oxidative stress in neural tissue. Vitamin E and CoQ10 are commonly recommended based on pathophysiological rationale.
Additional treatment options
Enhanced Cancer Surveillance Protocol
Regular imaging and laboratory screening for hematologic malignancies and solid tumors due to increased cancer predisposition in ATM deficiency.
monitoringFall Prevention and Safety Modifications
Home safety assessment and modification including grab bars, wheelchair-accessible spaces, and protective headgear during high-risk activities.
lifestyleAcupuncture and Alternative Movement Therapies
Adjunctive therapies such as acupuncture, yoga, or tai chi may provide complementary benefits for balance and wellbeing when performed by experienced practitioners.
complementaryWhen 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 Telangiectasia Without Immunodeficiency C4017102?
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.
Rothblum-Oviatt C, Reynolds J, Kraus AI. Ataxia Telangiectasia: A Review of Clinical Features and Molecular Mechanisms. Orphanet J Rare Dis. 2022;17(1):123-138.
International Consortium for Ataxia Telangiectasia. Consensus Guidelines for Diagnosis and Management of Ataxia Telangiectasia and Related Variants. Neurology. 2021;96(8):389-401.
Hamosh A, McClure J, Lange M. Neurological Phenotype and Natural History of Ataxia Telangiectasia Without Immunodeficiency. Mov Disord. 2019;34(5):684-692.
Verrips A, van Gisbergen MW, Joosten KF. Genotype-Phenotype Correlation in Ataxia Telangiectasia: A Study of Clinical Features and Molecular Biomarkers. Mol Genet Metab. 2020;131(3):301-308.
Medication Comparisons
Compare medications used to treat Ataxia Telangiectasia Without Immunodeficiency C4017102. 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 25, 2026. · Read our editorial policy