Ataxia-telangiectasia

[Lizzy Liz]

Ataxia-telangiectasia is a hereditary disorder characterized by incoordination, dilated capillaries, and an immunodeficiency that causes increased susceptibility to infections.

In children with ataxia-telangiectasia, incoordination usually develops when they begin to walk, and muscles progressively weaken, causing them to be greatly disabled.
Doctors do blood tests to diagnose the disorder.
Treatment involves antibiotics (to prevent infections) and immune globulin .

(See also Overview of Immunodeficiency Disorders.)
Ataxia-telangiectasia is a primary immunodeficiency disorder. It is usually inherited as an autosomal (not sex-linked) recessive disorder. That is, two genes for the disorder, one from each parent, are required.
The increased susceptibility to infections in people with ataxia-telangiectasia results from malfunction of B cells and T cells (lymphocytes), which help the body defend itself against microorganisms and abnormal cells. Often, levels of certain types (classes) of antibodies (immunoglobulins)—IgA and IgE—are also low.
Ataxia-telangiectasia also causes abnormalities in the cerebellum (the part of the brain that coordinates the body’s movements), which are unrelated to the immunodeficiency disorder and which result in loss of coordination.