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Riley-Day syndrome is an inherited disorder that affects 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). 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)
Decrease in sense of taste
Inability to feel pain and changes in temperature (can lead to injuries)
Lack of tears when crying
Long periods of vomiting
Poor coordination and unsteady walk
- Skin blotching
- Sweating while eating
- Unusually smooth, pale tongue surface
Symptoms are present at birth and grow worse over time.
Signs and tests
The health care provider will do a physical exam to look for:
Absent or decreased deep tendon reflexes
Lack of a response after receiving a histamine injection (normally redness and swelling would occur)
Lack of tears with crying
Low muscle tone (hypotonia
), especially in babies
Tiny pupils after receiving certain eye drops
Blood tests are available to check for the IKBKAP gene.
Treatment may include:
Anticonvulsant therapy for seizures
Measures to prevent low blood pressure when standing (postural hypotension), such as increasing intake of fluid, salt and caffeine, and wearing elastic stockings
Medicines to control vomiting
Medicines to prevent dry eyes
Physical therapy of the chest
Protecting against injury
Providing enough nutrition and fluids
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.
The following complications are possible:
- Blotching of the face and torso
- Excessive sweating of the head and torso
- High blood pressure (hypertension) and rapid heart rate (tachycardia)
- Patchy skin tone on the hands and feet
- Nausea and vomiting
- Severe problems 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 teach you about the condition and direct you to support groups in your area.
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.
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.
- Last reviewed on 10/31/2012
- 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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This page was last updated: May 20, 2014