Ataxia+telangiectasia

=KRS.iKriss26 =



The Gene responsible for Ataxia Telangiectasia is located on chromosome 11. it is inherited in an autosomal recessive pattern so both copies of the ATM gene have mutations. The parents of an individual with the recessive condition carry on copy of the gene but don't show any symptoms.

It can be Characterized by cerebellar Degeneration (loss of balance), immunodeficiancy (immune system stops working), chromosomal instability (DNA metabolism is abnormal), radiosensitivity (Damage of cells, tissues, organs, orgamisms, and other substances caused by the action of radiation), and cancer predisposition (very likely to get cancer).

Children are mostly prone to this disease before they reach the age of 5, but it happens in 1 in 40,000 to 100,000 people worldwide. The diagnosis relies on clinical findings like slurred speach, truncal ataxia, and oculomotor apraxia. The diagnosis includes severely depleted levels of intracellular ATM protein, elevated serum alpha-fetoprotein concentration, chromosome translocation, immunodeficiency, and radiosensitivity.

The diagnosis relies on clinical findings such as slurred speech, truncal ataxia, and oculomotor apraxia. Laboratory findings include severely depleted levels of intracellular ATM protein, elevated serum alpha-fetoprotein concentration, chromosome translocation, immunodeficiency, and radiosensitivity.

Treatments for this disorder include IVIG replacement therapy for individuals with severe infections that happen frequently, aggressive pulmonary hygiene for those with chronic bronchietasis, supportive therapy for drooling, choreothetosis, and ataxia.

People can't live a very normal life due to the symptoms of this disease and basically only live till about 25 or 50 if they're lucky. Pulmonary failure in this disorder can cause the death of some individuals.

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