Riley-Day syndrome Definition
Riley-Day syndrome is an inherited disorder that affects nerves throughout the body.
Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)
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 occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused by a change (mutation) to a gene. It is rare in the general population.
Symptoms of Riley-Day syndrome include:
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
Sweating while eating
Unusually smooth, pale tongue surface
Symptoms are present at birth and grow worse over time.
Exams and Tests
Your 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, especially in babies
Repeated episodes of high blood pressure
Severe curving of the spine ( scoliosis)
Tiny pupils after receiving certain eye drops
Blood tests are available to check for the gene mutation that causes Riley-Day syndrome.
Treatment may include:
Therapy to help prevent seizures
Feeding in an upright position and giving textured formula to prevent gastroesophageal reflux (stomach acid and food coming back up, also called GERD)
Measures to prevent low blood pressure when standing, 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
Measures to protect against 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. About half of babies born with Riley-Day will live to age 30.
The following complications are possible:
Blotching of the face and torso
Excessive sweating of the head and torso
High blood pressure and rapid heart rate
Patchy skin tone on the hands and feet
Nausea and vomiting
Severe problems swallowing, 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 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 those 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.
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Richard J. Moskowitz, MD, dermatologist in private practice, Mineola, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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