Headache Australia

Dysautonomia

(Familial Dysautonomia, Riley-Day Syndrome)

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.

Further Information and Support

Click here for the latest Australian research papers on Dysautonomia.


National Institute of Neurological Disorders and Stroke
www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm

Dysautonomia Foundation - USA
www.familialdysautonomia.org/index.htm




Reviewed by Professor Robert Ouvrier, Clinical Professor, Department of Neurology, New Children's Hospital, Westmead

 

Please consider donating to help maintain and expand
our crucial brain research.
 read more....

Donate to Vital Brain Research Leave a Bequest

DISCLAIMER: The information provided is designed to support, not replace, the relationship that exists between a patient / site visitor and his / her existing health care professionals.

Donate to Vital Brain Research
Leave a Bequest
fundraising-icon-hover