Familial Dysautonomia Research Paper

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Familial dysautonomia affects the development of sensory neurons. It affects two important nervous systems: the autonomic nervous system, which controls a persons involuntary actions, and the sensory nervous system, which controls a persons senses. It starts at birth and shortens a victim’s life span drastically. (Genetics Home Reference)
At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...

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