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.