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    Riley-Day syndrome

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

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

    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

    • Breath holding spells (can lose consciousness)
    • Constipation
    • Decrease in sense oftaste
    • Diarrhea
    • Dry eyes
    • Feeding problems
    • Inability to feel pain and changes in temperature (can lead to injuries)
    • Lack of tears when crying
    • Longperiods of vomiting
    • Poor coordination and unsteady walk
    • Poor growth
    • Repeated fevers
    • Repeated pneumonia
    • Seizures
    • Skin blotching
    • Sweating while eating
    • Unusually smooth, pale tongue surface

    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:

    • 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
    • Repeated episodes of high blood pressure
    • Severe scoliosis
    • Tiny pupils after receiving certain eye drops

    Blood tests are available to check for the IKBKAP gene.

    Treatment

    Treatment may include:

    • Anticonvulsant therapyfor seizures
    • Feeding in an upright position and giving textured formula to prevent gastroesophageal reflux
    • Measures to prevent low blood pressure when standing (postural hypotension), such as increasing intake of fluid, salt andcaffeine, and wearing elastic stockings
    • Medicinesto control vomiting
    • Medicines to prevent dry eyes
    • Physical therapy of the chest
    • Protectingagainst injury
    • Providing enough nutrition and fluids
    • Surgery or spinal fusion
    • Treating aspiration pneumonia

    Outlook (Prognosis)

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

    Possible Complications

    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)
    • Insomnia
    • Irritability
    • Patchy skin tone on the hands and feet
    • Nausea and vomiting
    • Severe problems swallowing (dysphagia), drooling
    • Worsening of muscle tone

    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 anddirect you to support groups in your area.

    Prevention

    Genetic DNA testingis 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 forprenatal 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.

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    • Chromosomes and DNA

      illustration

      • Chromosomes and DNA

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      A Closer Look

        Self Care

          Tests for Riley-Day syndrome

            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.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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