Riley-Day syndrome is an inherited disorder that affects the development and function of nerves throughout the body.
Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)
Causes, incidence, and risk factors
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.
Breath holding spells (can lose consciousness)
Inability to feel pain and changes in temperature (can lead to injuries)
Severe difficulty swallowing (dysphagia), drooling
Worsening of muscle tone
Calling your health care provider
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.
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.
Harati Y, Bosch EP. Disorders of peripheral nerves. In: Bradley WG, Daroff RB, Fenichel G, Jankovic J, eds. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa: Butterworth-Heinemann Elsevier; 2008:chap 80.
Klein CJ. The inherited neuropathies. Neurol Clin. 2007;25:173-207.
Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine. Also reviewed by Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.