Familial Dysautonomia

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by KaseyKettle13
Last updated 9 years ago

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Familial Dysautonomia

Familial Dysautonomia

Statistics of FD-the average life span of the FD population is 15 years. -Babies born with FD have a 50% chance of surviving to age 40. -2 carrying parents have a 25% chance every pregnancy of having a child with FD. - 1/3 of FD patients live in New York City -1/3 live in Isreal

What is known about this disorder? -This disorder impacts the autonomic and sensory nervous systems. the impacts on theses systems are from the incomplete development of the neurons of these two systems. -The autonomic nervous system controls bodily functions including overflow of tears, breathing when there is not enough oxygen, blood pressure and normal swallowing and digestion.-The disease occurs due to a mutation in the (IBKAP) protien on the chromosome 9q.

Symptoms and effects of FD symptoms in baby include- -poor muscle tone -weak or absent suck -respiratory congestion-blotching of the childs skin Symptomes in Older Child -poor balance -scoliosis -episodic vomiting-excessive drooling or sweating -decreased reaction to pain or no reaction at all

Impacts on life CRISIS occurs when the child is stressed no matter wether its good or bad stress. during this blood pressure goes up and heart rate increases.-The victim feels very uncomfortable in their own skin.Some people with this disorder cannot walk and others can go to school. -Some people with the disorder cannont feel where their limbs are in space but can feel through their skin.

How is it inherited?FD is a genetic condition that is seen only in Eastern European (Ashkenazi) Jewish descent. -1 in 27 in this group of people is a carrier of the FD gene. -The child that gets FD recieves both of their parents recessive genes 1 from the childs mother and 1 from the childs father. -When two carriers produce a baby then they have a 25% chance of getting a child with FD each pregnancy.

Treatment for FD Treatments for FD vary depending on the age of the patient and the severity of their symptoms.-Special feeding techniques -Nutritional guidlines -special therapies ;Feeding,occupational,physical and speech therapy. -Special drugs of autonomic manifestations -Respiratory care -and Protecting the child from injury These are all examples of Treatment approaches for patients with FD.

Intresting Facts Also known as Riley-Day syndrome -The major causes for death are from pulmonary complications or autonomic instability. -The disorder was first described by Conrad Riley and Richard Day in 1949 in New York. -researchers use mice to study the FD gene and its affects to different types of therapies. -28 patients have married -5 patients have children of their own who are unaffected by the disorder.

http://www.themitzvahbowl.com/tag/familial-dysautonomia-foundation/

http://www.familialdysautonomia.org/research.php

http://www.youtube.com/watch?v=FXmT9vv-EkU

http://www.youtube.com/watch?v=DcyhwGEhZKM

http://www.familialdysautonomia.org/geneticsq.php


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