What is Ataxia Telangiectasia
Ataxia telangiectasia or, Louis-Bar syndrome is a rare autosomal recessive genetic disorder that happens in childhood. It commonly affects the cerebellum, the part of the brain that is responsible for movement control; and the cerebrum which is concerned with verbal expression.
A child with this particular neurological problem exhibits uncoordinated movement patterns, difficulty in articulating spoken words, and visual disturbances. It is also known to be an immunodeficiency condition. The function of the immune system is severely compromised making the patient more susceptible to acquiring contagious diseases.
Ataxia telangiectasia’s pattern of inheritance is autosomal recessive, which means that copies of defective Ataxia telangiectasia mutated (ATM) genes must come from both parents to cause the disorder. So there is a 25 per cent chance of having a child affected with A-T.
ATM genes produce proteins that are essential for cell division control and are also responsible for the proper functioning of the nervous and immune systems. Mutations in ATM genes leads to a reduction of ATM protein, which in turn causes cell death. When cell death occurs in the cerebellum and in the cerebrum, movement and speech are impaired, respectively.
The signs exhibited by the patient are used as typical ataxia telangiectasia diagnosis information. This condition has no specific predisposition to race and gender.
The doctor will initially conduct a thorough physical assessment of the patient in order to identify signs and symptoms that are associated with the condition. Uncoordinated, jerky movements, muscle twitching, poor balance, hypersensitivity to radiation and the presence of spider-like veins on the face and in the sclera of the eyes usually points toward the diagnosis of ataxia telangiectasia.
Diagnostic studies will also be conducted to provide the patient and the doctor with ataxia telangiectasia diagnosis information. Laboratory diagnostic tests such as glucose tolerance test, X-rays, and blood tests to check for the levels of Alpha fetoprotein, immunoglobulin, carcinoembryonic antigen (CEA) will be required to further confirm the diagnosis.
The life expectancy of a patient diagnosed with ataxia telangiectasia varies from person to person. It can be said however that the prognosis for patients is considered poor since they have an increased chance of developing diabetes, postural problems such as scoliosis, recurrent respiratory infections as well as different forms of cancer. Also, there is no known cure available for ataxia telangiectasia at this time. Patients with ataxia telangiectasia usually die during their teens or early twenties.
Prevention and Treatment
Knowing one’s medical family history is important. Genetic counseling and cancer screening is useful for couples who are planning to get pregnant. Since no cure is available, treatment is mainly symptomatic and is usually directed towards giving support to the patient with ataxia telangiectasia. Wheelchairs for example may help in preventing falls and will aid in the patient’s mobility.