Riley-Day syndrome
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Definition
Riley-Day syndrome is an inherited disorder that affects the development and function of nerves throughout the body.
Alternative Names
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.
References
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.
Review Date: 10/10/2010
Reviewed By: 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)
Symptoms
Breath holding spells (can lose consciousness)
Constipation
Decreased taste
Diarrhea
Dry eyes
Feeding difficulties
Inability to feel pain and changes in temperature (can lead to injuries)
Lack of tears when emotional crying
Long episodes of vomiting
Poor coordination - unsteady walk
Poor growth
Repeated fevers
- Seizures
- 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 perform a physical exam. The patient may have:
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 emotional 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. The detection rate in the Ashkenazi Jewish population is greater than 99%.
References
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.
Review Date: 10/10/2010
Reviewed By: 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)
Treatment
Treatment may include:
Anticonvulsant therapy if there are seizures
Increased fluid and salt intake, caffeine, and elastic stockings to prevent low blood pressure when standing (postural hypotension)
Medicines called antiemetics, to control vomiting
Medicines, including liquid tears, to prevent dry eyes
Physical therapy of the chest
Protecting the person from injury
Providing enough nutrition and fluids
Expectations (prognosis)
With advances in diagnosis and treatment, survival continues to improve. Currently, a newborn with Riley-Day has a 50% chance of reaching age 30.
Complications
The following complications occur in about 40% of patients with this condition:
- Blotching of the face and torso
- Excessive sweating of the head and torso
- High blood pressure (hypertension) and rapid heart rate (tachycardia)
- Insomnia
- Irritability
- Mottling of the hands and feet
- Nausea/vomiting
- 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.
References
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.
Review Date: 10/10/2010
Reviewed By: 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)
Prevention
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.
References
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.
Review Date: 10/10/2010
Reviewed By: 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Review Date: 10/10/2010
Reviewed By: 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.