Neuromuscular diseases
An inherited disease that affects many body systems. Balance problems begin in early childhood. The immune system is weakened and the risk of cancer is increased.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
Orphanet has a guideline for emergency doctors for this disease (language: French, Spanish). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Neuromuscular diseases” group.
Changes in the ATM gene cause the disease. This gene makes a protein that helps repair damaged DNA. When the protein does not work, cells in the cerebellum are damaged. The immune system is weakened and the cells become very sensitive to radiation.
Symptoms usually begin before the age of 5.
The doctor examines the child and looks at the symptoms. Alpha-fetoprotein (AFP) in the blood is usually high. Immune tests are done, and the diagnosis is confirmed with a genetic test that looks at the ATM gene.
In September 2026, an approved treatment specific to the disease became available in the USA for movement and balance problems. This treatment does not cure the disease itself. Physiotherapy and speech therapy provide support. Immune deficiency and nutrition problems are managed separately. Unnecessary X-rays are avoided, and radiation therapy is avoided. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Recessive diseases can be more common in families where relatives marry each other. Carriers do not develop the disease, but the risk of some cancers may be increased. Women who are carriers have a higher risk of breast cancer. Genetic counselling helps the family talk through these risks.
Source: MedlinePlus Genetics: Ataxia-telangiectasia · MedlinePlus Medical Encyclopedia: Ataxia-telangiectasia · NeurologyLive: FDA approves first treatment for ataxia in A-T (18 Eylül 2026)
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
For all rare diseases: Nadir Hastalıklar Federasyonu
Links checked on October 8, 2026.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
USANew treatments and approvals
The US Food and Drug Administration (FDA) approved levacetylleucine for balance and walking problems in ataxia-telangiectasia (A-T).
TürkiyeDiagnosis and screening
A total of 21 patients from four pediatric neurology centers were studied.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
Questions you can ask your doctor
ClinicalTrials.gov lists 4 active interventional studies for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)RecruitingNCT07215416
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)Not yet recruitingNCT07499999
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)Active, not recruitingNCT06673056
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)Active, not recruitingNCT04870866
See all studies on ClinicalTrials.gov · Joining clinical trials
InternationalResearch and clinical trials
The HIMALAYA study, published in The Lancet Neurology, examined an experimental drug in patients with ALS (amyotrophic lateral sclerosis).
TürkiyeResearch and clinical trials
A multicenter study in Istanbul compared patients with Guillain-Barré syndrome.
ChinaResearch and clinical trials
A one-year, placebo-controlled study in patients with SCA3 was carried out in China.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:100
No separate ICD-11 code; WHO classifies this disease under: 4A01.31
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.