Ataxia telangiectasia is a disease of genetic cause (mutation of the ATM gene) that affects various body systems (nervous, immune) and predisposes to certain diseases (infections, tumors).
Due to its incidence, it is considered a rare disease (between 1:40,000 and 1:100,000 births).
In its typical form – “classic” – it usually appears in childhood, with those affected presenting, although in a variable way:
- Unstable gait (ataxia)
- Capillary dilations in the skin and eyes (telangiectasias).
- Immunodeficiency, which predisposes you to recurrent infections, especially of the respiratory tract, and which can cause severe damage to the lungs.
- Cancer: especially frequently leukemias and lymphomas in childhood.
- Sensitivity to ionizing radiation.
Although the disease lacks a specific treatment, the life expectancy of those affected has increased considerably due to better care for the symptoms and diseases they present.
Ataxia telangiectasia is a progressive disease, so over time, especially the neurological situation worsens, which means that different aids are required to walk and ultimately require the use of wheelchairs for movement.
Various endocrinological disorders can also appear with adolescence.
As a genetic disease, it presents an autosomal recessive inheritance pattern, so both parents need to be carriers of a copy of the mutated gene.
The ATM gene is located on chromosome 11. It encodes a key protein in DNA repair and cell cycle processes.
In recent years, the appearance of “atypical” forms has also been observed, in which the onset is later and its progression is slower.
The arrival of more and more patients to adulthood is also allowing the presentation of other processes with effects on other body systems, not as described in previous literature, where survival rarely exceeded adolescence.
The presentation of the disease may differ in its appearance, symptoms and complications between different patients.
Although it is a rare disease, its research is important due to its relationship with other more common diseases, such as cancer.