Ataxia Telangiectasia
Methodology & AI Transparency ⓘ
Ataxia Telangiectasia Key Takeaways
Translated by Sarah Jenkins (AI RN Plain-English Translator) at a 7th-grade reading level
- 1 What it does: Ataxia-telangiectasia (A-T) is a rare, inherited disease.
- 2 Real-world patient consensus: Diagnostic registry I78.1: Ataxia Telangiectasia is managed within Cancer & Oncology.
- 3 Typical cash cost range: Differential triage of Ataxia Telangiectasia (I78.1) utilizes targeted/immunotherapy [Ataxia Telangiectasia I78.1].
- 4 Top reported side effects / signs: Follow-up benchmark in Ataxia Telangiectasia: maintaining Comprehensive Metabolic & in Ataxia Telangiectasia (I78.1: Organ Function Panel) within Preserved renal/hepatic clearance (I78.1).
Ask our AI Specialists anything about Ataxia Telangiectasia
What Is Ataxia Telangiectasia?
Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include: Ataxia - trouble coordinating movements Poor balance Slurred speech Tiny, red spider veins, called telangiectasias, on the skin and eyes Lung infections Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms.
Pathophysiology, Underlying Causes & Clinical Presentation
Tissue-level etiology in Ataxia Telangiectasia (I78.1) features potential lymphatic or in Ataxia Telangiectasia (I78.1: hematogenous dissemination if). Cross-referenced with NIH MeSH (Ataxia Telangiectasia), therapeutic stabilization in cancer & oncology is verified against Pathology / Molecular in Ataxia Telangiectasia (I78.1: Genomic Staging).
Common Symptoms & Clinical Signs
- • Ataxia - trouble coordinating movements
- • Tiny, red spider veins, called telangiectasias, on the skin and eyes
- • Presentation of Ataxia Telangiectasia (I78.1): persistent painless lump, in Ataxia Telangiectasia (I78.1: non-healing ulcer/mole change,)
- • Secondary Ataxia Telangiectasia clinical sign: unintended weight loss [Ataxia Telangiectasia I78.1]
Primary Federal Reference: NIH / National Library of Medicine MedlinePlus Entry ↗
Ataxia Telangiectasia Diagnostic Classification & Lab Markers
| Metric | Verified Benchmark | Source |
|---|---|---|
| ICD-10-CM Diagnostic Code | I78.1 | WHO / CMS ICD-10-CM Clinical Classification |
| Clinical Specialty Hub | Cancer, Oncology & Supportive Care | NIH MedlinePlus Health Topics |
| Diagnostic / Lab Marker: Comprehensive Metabolic & in Ataxia Telangiectasia (I78.1: Organ Function Panel) | Preserved renal/hepatic clearance (I78.1) | Clinical Reference Target Range |
| Diagnostic / Lab Marker: Pathology / Molecular in Ataxia Telangiectasia (I78.1: Genomic Staging) | Guideline-concordant surveillance (I78.1) | Clinical Reference Target Range |
| Diagnostic / Lab Marker: Complete Blood Count in Ataxia Telangiectasia (I78.1: (ANC, Hemoglobin, Platelets)) | Safe hematologic reserve (I78.1) | Clinical Reference Target Range |
FDA-Monographed Medications & Public Cash Price Reference for Ataxia Telangiectasia
Treatment selection for Ataxia Telangiectasia depends on clinical severity, diagnostic lab results, and medical history. Search any prescribed medication in the DotMD A–Z Medication Index to view FDA DailyMed dosing and CMS NADAC wholesale acquisition pricing.
Peer-Reviewed Human Clinical Trials & Meta-Analyses (Ataxia Telangiectasia)
| Study & Plain-English Finding | Sample (N) | Rigor | Primary Source |
|---|---|---|---|
| New Insights on Isatuximab plus bortezomib, lenalidomide, and dexamethasone for: What a 265-Participant Study Found This post hoc subgroup analysis of the IMROZ trial demonstrated that Isa-VRd is an effective option with a manageable safety profile for frail patients with Ti NDMM (clinicaltrials gov. Haematologica • 2025-09-01 • Phase III Randomized Trial | N = 265 | 87/100 | PMID 40109195 ↗ |
| New Insights on Pomalidomide, Bortezomib, and Dexamethasone Versus Bortezomib and Dexamethasone: What a 559-Participant Study Found Findings showed a nonsignificant trend towards improved OS with PVd versus Vd. European journal of haematology • 2025-05-15 • Phase III Randomized Trial | N = 559 | 87/100 | PMID 39777934 ↗ |
| Can This Approach Help? Inside the Latest Research on A phase III randomized controlled trial comparing local field with additional We plan to enroll 280 patients from 54 institutions over 4 years. Japanese journal of clinical oncology • 2024-01-07 • Phase III Randomized Trial | Multi-cohort | 82/100 | PMID 37801434 ↗ |
| Can This Approach Help? Inside the Latest Research on Adjusting for subsequent therapies in the TOURMALINE-MM1 study shows clinically IRd may be particularly beneficial in patients with ≥2 prior lines of therapy (IPCW and MSM HR=0.52, 95% CI: 0.30-0.88; RPSFTM HR=0.68, 95% CI: 0.51-0.91). Haematologica • 2024-08-01 • Phase III Randomized Trial | Multi-cohort | 82/100 | PMID 38426294 ↗ |
| Can This Approach Help? Inside the Latest Research on Pre-treatment PET/CT for head and neck squamous cell carcinoma: secondary Pre-treatment PET/CT imaging was not independently associated with improved survival outcomes in adjusted analyses. Oral oncology • 2025-10-15 • Phase III Randomized Trial | Multi-cohort | 82/100 | PMID 40884854 ↗ |
Ataxia Telangiectasia Patient Community & “People Like Me” Threads
Filter Ataxia Telangiectasia community threads and patient logs by age, biological sex, dosage, and treatment duration.