Case Study : Louis Bar Syndrome Essay

1152 Words Dec 6th, 2015 null Page
Ataxia-Telangiectasia
Synonym: Louis-Bar Syndrome

Ataxia-Telangiectasia (A-T) is an autosomal recessive disease and a rare inherited disorder caused by the inactivation of the ATM gene. It can affect many body systems, but the defects are mainly found in the nervous system and the immune system. The ATM gene is important because it encodes a kinase protein, which plays a key role in repairing DNA breakage (1). If the ATM gene is inactivated, there will not be enough ATM protein and DNA damage will accumulate, which eventually causes the dead of many cells, especially central nervous cells (1)(3)(4). The inability to repair DNA breakage also affects the recombination process of T-cell receptors and Ig genes, which then results in the abnormal humoral and cell-mediated immunity.
Symptoms
Individuals with this disorder will have difficulty with movement (ataxia) which begins in early childhood and becomes more severe later (4). This problem is caused by abnormalities in the cerebellum (6) which controls balance and movement. Affected children usually have disturbed nerve function, difficulty in walking and moving hands; they also have problems with jerking movement, and muscle twitches. (4)
With increasing age, children with this disorder develop trouble moving their eyes when tracking moving objects (oculomotor apraxia). Their speaking and swallowing abilities are also be affected (6). By the age of 10-12 years, most of them usually need to use a wheelchair because they have…

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