Ataxia Telangiectasia
Abstract
Ataxia-telangiectasia is an inherited disease related to an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder. The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement. During development boys and girls are equally affected. Symptoms can include obvious gross decreased coordination of movements in late childhood to include delayed eye hand coordination, uncoordinated or jerky gait which comes from cerebellar ataxia, decreasing mental development, discoloration of skin areas, enlarged blood vessels in the skin of nose, ears, and inside of the elbow and knee, enlarged blood vessels in the sclera, nystagmus as a late sign, seizures and even severe recurring respiratory infections unfortunately there are not treatments as of yet for this illness and we can only treat the symptoms as they occur and progress. Life expectancy and prognosis decreases throughout the years but can vary. The only prevention of this illness that is known today is that parents with this known genetic train to abstain from trying to have children with out genetic counseling first.
“Ataxia telangiectasia, also refereed to as AT or Louis-Bar Syndrome) is a primary rare, neurodegerative, inherited immunodeficiency disease that affects a number of different organs in the body but primarily the CNS. An immunodeficiency disease is one that causes the immune system to break down, making the body susceptible to diseases. A rare, recessive genetic disorder of childhood that occurs in between 1 out of 40,000 and 1 out of 100,000 persons worldwide. The disease is generally fatal to patients by the time they reach their twenties and it effects both boys and girls are the same rate”. A-T is
Ataxia-telangiectasia is an inherited disease related to an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder. The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement. During development boys and girls are equally affected. Symptoms can include obvious gross decreased coordination of movements in late childhood to include delayed eye hand coordination, uncoordinated or jerky gait which comes from cerebellar ataxia, decreasing mental development, discoloration of skin areas, enlarged blood vessels in the skin of nose, ears, and inside of the elbow and knee, enlarged blood vessels in the sclera, nystagmus as a late sign, seizures and even severe recurring respiratory infections unfortunately there are not treatments as of yet for this illness and we can only treat the symptoms as they occur and progress. Life expectancy and prognosis decreases throughout the years but can vary. The only prevention of this illness that is known today is that parents with this known genetic train to abstain from trying to have children with out genetic counseling first.
“Ataxia telangiectasia, also refereed to as AT or Louis-Bar Syndrome) is a primary rare, neurodegerative, inherited immunodeficiency disease that affects a number of different organs in the body but primarily the CNS. An immunodeficiency disease is one that causes the immune system to break down, making the body susceptible to diseases. A rare, recessive genetic disorder of childhood that occurs in between 1 out of 40,000 and 1 out of 100,000 persons worldwide. The disease is generally fatal to patients by the time they reach their twenties and it effects both boys and girls are the same rate”. A-T is
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