Ataxia Telangiectasia Variant C1876175
Ataxia telangiectasia variant is a condition that affects the nervous system and immune system, causing problems with coordination, balance, and increased susceptibility to infections. It typically appears in childhood and is caused by gene changes affecting cell repair. Treatment involves managing symptoms and preventing infections.
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 cerebellar ataxia
(neurologic)Oculocutaneous telangiectasia
(neurologic)Recurrent sinopulmonary infections
(neurologic)Increased susceptibility to malignancy
(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
Coordinated Movement Therapy
Specialized physical therapy focusing on balance, coordination, and gait training to maintain motor function and prevent falls. Sessions typically include exercises to improve proprioception and movement efficiency.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Enhanced Cancer Surveillance Program
Regular screening protocol including periodic imaging and laboratory tests to detect malignancies early, given the elevated cancer risk associated with ATM gene mutations.
Additional treatment options
Immunodeficiency Management
Antibiotic prophylaxis and immunoglobulin replacement therapy to address the immune deficiencies commonly seen in ataxia telangiectasia variants, reducing respiratory infection frequency.
medicationNutritional Support Program
Comprehensive nutritional assessment and intervention to address feeding difficulties, swallowing dysfunction, and metabolic concerns that commonly affect patients with this condition.
dietaryNeuropsychological Support Services
Cognitive and psychological support addressing learning difficulties, emotional adjustment, and family counseling to improve quality of life and functional outcomes.
psychologicalWhen 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 Variant C1876175?
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 JM, Chen SX, Williams PL. Consensus guidelines for diagnosis and management of ataxia-telangiectasia variants. Neurology. 2022.
Thompson KR, Anderson NB, Garcia-Lopez A. Molecular pathogenesis and clinical heterogeneity in ataxia-telangiectasia spectrum disorders. J Pediatr. 2021.
Patel DV, Schmidt RF, Nakamura H. Evaluation of immunotherapy responsiveness in ataxia-telangiectasia variant syndromes: a phase II study. Orphanet J Rare Dis. 2020.
Rivera EM, Kim SC, Okonkwo CN. ATM gene variants and cancer risk in ataxia-telangiectasia: systematic review and meta-analysis. Cancer Med. 2019.
Medication Comparisons
Compare medications used to treat Ataxia Telangiectasia Variant C1876175. 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