Riley-Day syndrome

Definition

Riley-Day syndrome is an inherited disorder that affects nerves throughout the body.

Alternative Names

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

Causes

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). The disease is caused by a change (mutation) of the IKBKAP gene on chromosome 9. It is rare in the general population.

Symptoms

Symptoms are present at birth and grow worse over time.

Exams and Tests

The health care provider will do a physical exam to look for: 

Blood tests are available to check for the IKBKAP gene.

Treatment

Treatment may include:

Outlook (Prognosis)

Advances in diagnosis and treatment are increasing the survival rate. A newborn baby with Riley-Day has a 1 in 2 chance of living to age 30.

Possible Complications

The following complications are possible:

When to Contact a Medical Professional

Call your doctor if symptoms change or get worse. A genetic counselor can help teach you about the condition and direct you to support groups in your area.

Prevention

Genetic DNA testing is very accurate for Riley-Day syndrome. It may be used for diagnosing people with the condition or who carry the gene. It can also be used for prenatal diagnosis.

People of Eastern European Jewish background and families with a history of Riley-Day syndrome may wish to seek genetic counseling if they are thinking of having children.

References

Katirji B, Koontz D. Disorders of Peripheral Nerves. In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC, eds.Bradley’s Neurology in Clinical Practice. 6th ed. Philadelphia, Pa:Saunders Elsevier; 2012:chap 76.

Klein CJ. The inherited neuropathies. Neurol Clin. 2007;25:173-207.


Review Date: 10/31/2012
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang.
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