Diagnosis Article Count: 5
Ataxia telangiectasia is difficult to diagnose. Thus, it is generally long. This section discusses the symptoms of the disease and its evolution, parameters to be considered for the diagnosis and the possibility of prenatal diagnosis in a family project.
Who is concerned? Article Count: 2
It is estimated that ataxia telangiectasia affects 1 in 100 000. This section argues that estimate and how the disease spreads
The ATM gene Article Count: 5
Impairment of the ATM gene is responsible for ataxia telangiectasia. This section describes its essential role in the body.
Immunodeficiency Article Count: 3
80% of children with ataxia telangiectasia have an immune deficiency, different from one child to another. To understand the role of this factor in the evolution of the disease, a reminder of immunity is made here before the explanation of the role of the ATM gene in this deficiency and pulmonary effects that it induces.
Neurological disorders Article Count: 5
Ataxia telangiectasia is also a progressive neurological disease. This section describes how the different parts of the body are affected.
Cancers Article Count: 4
Cancers are a feature of the evolution of ataxia telangiectasia. This chapter outlines the mechanisms and the main types of cancers found in the disease.
Associated conditions Article Count: 4
By its function, the ATM gene is ubiquitous in the body, so that the symptoms of ataxia telangiectasia are extremely varied. Thus, skin, growth and regulation of certain hormones may be affected.