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Riley-Day syndrome

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Illustrations

Chromosomes and DNA
Chromosomes and DNA

Alternative Names    Return to top

Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III

Definition    Return to top

Riley-Day syndrome is an inherited disorder that affects nerve function throughout the body. Symptoms are present at birth and grow worse over time.

Causes    Return to top

Riley-Day syndrome is inherited as an autosomal recessive trait, which means that a person must inherit a copy of the malfunctioning gene from each parent in order to develop the condition.

It 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 mutation of the IKBKAP gene on chromosome 9. It is rare in the general population.

Symptoms    Return to top

Infants with this condition have feeding problems and develop pneumonia caused by breathing food into their airways. Vomiting and sweating spells begin as the infant gets older. Young children may also have breath-holding spells that cause them to lose consciousness, since they can hold their breath for long enough to pass out without feeling the discomfort that normal children would.

An important sign of Riley-Day syndrome is inability to feel pain. This leads to injuries that might not have occurred had the child felt the pain. Children do not feel the normal sensations such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing. Bone and skin pain, including burns, are also poorly perceived. However, they can feel internal pain, such as menstrual cramps.

Intelligence is expected to be in the normal range.

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 IKBKAP gene on chromosome 9. The detection rate in the Ashkenazi Jewish population is greater than 99%.

Treatment    Return to top

Treatment may include:

Postural hypotension (low blood pressure when standing) can be managed with increased fluid and salt intake, caffeine, and waist-high elastic stockings

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 symptoms of "autonomic crises" occur in about 40% of patients:

When to Contact a Medical Professional    Return to top

Call your doctor if symptoms change or worsen.

Prevention    Return to top

Individuals of 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 risk and undergo testing where appropriate.

Genetic testing is very accurate for Riley-Day syndrome and may be used for diagnosis of affected individuals as well as for carrier detection and prenatal diagnosis.

Update Date: 12/11/2006

Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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