TürkiyeDiagnosis and screening
21 ataxia-telangiectasia patients in İzmir and Siirt: diagnosis delayed by 21 months on average
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
A total of 21 patients from four pediatric neurology centers were studied. Symptoms began at a median age of 26 months. Diagnosis, however, was made at a median age of 5 years. This means a delay of 21 months. Widened blood vessels in the eye were present in all patients. In 95% of patients, immune proteins were low.
What does it mean for patients and families?
This disease should be considered in a child with balance problems and frequent infections. A simple blood test can help with the diagnosis. This is a small study.
Source
Scientific paper: Ataxia-telangiectasia in pediatric neurology clinics: A retrospective multicenter study. Pediatrics International, 2026. DOI: 10.1111/ped.70330 · PubMed 41660796
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Ataxia-telangiectasia (A-T)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.