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Description

Familial Dysautonomia (also known as Riley-Day Syndrome) is a rare genetic disorder that affects the sensory and autonomic nerve system. It is found primarily in children of Eastern European Jewish background (Ashkenazi Jews) who have inherited two recessive genes (i.e. one from each parent).

People born with this disorder have a reduced number of nerve fibres; as a result, they have reduced sensations of pain, touch, temperature and taste. In addition, they are unable to produce overflow tears, have impaired motor coordination, and have difficulty with sucking and swallowing. This leads to repeated vomiting, and frequent lung infections that are brought about by gastrointestinal fluids entering the lungs. Other problems that may occur include excessive sweating, seizures, scoliosis and delayed puberty in girls.


Treatment

While there is no cure for this genetic disorder, medical care is directed at relieving the symptoms it causes. For example, a feeding tube inserted into the stomach can assist in feeding, and prevent fluids etc. from entering the lungs, while drugs are prescribed to prevent vomiting and seizures, eye drops lubricate dry eyes, and surgery can correct scoliosis.


Prognosis

With improved medical care, the life expectancy of people with Dysautonomia is increasing, and about 50 per cent live to the age of 30.

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