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Riley-Day syndrome

Contents of this page:


Chromosomes and DNA
Chromosomes and DNA

Alternative Names    Return to top

Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)

Definition    Return to top

Riley-Day syndrome is an inherited disorder that affects the development and function of nerves throughout the body.

Causes    Return to top

Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene from each parent to develop the condition.

This condition is seen most often in people of Eastern European Jewish ancestry (Ashkenazi Jews), where the incidence is 1 in 3,700. The disease is caused by a change (mutation) of the IKBKAP gene on chromosome 9. It is rare in the general population.

Symptoms    Return to top

Symptoms are present at birth and grow worse over time.

Exams and Tests    Return to top

The health care provider will perform a physical exam. The patient may have:

Blood tests are available to check for the IKBKAP gene. The detection rate in the Ashkenazi Jewish population is greater than 99%.

Treatment    Return to top

Treatment may include:

Outlook (Prognosis)    Return to top

With advances in diagnosis and treatment, survival continues to improve. Currently, a newborn with Riley-Day has a 50% chance of reaching age 30.

Possible Complications    Return to top

The following complications occur in about 40% of patients with this condition:

When to Contact a Medical Professional    Return to top

Call your doctor if symptoms change or get worse. A genetic counselor can help clarify information about the condition and tell you how to contact support groups in your area.

Prevention    Return to top

People who are of an Eastern European Jewish background and families with a history of Riley-Day syndrome who are thinking of having children can seek genetic counseling to discuss their risk and undergo testing, when appropriate.

Genetic testing by DNA is very accurate for Riley-Day syndrome. It may be used for diagnosing affected individuals, detecting carriers, and prenatal diagnosis.

Update Date: 10/15/2008

Updated by: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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