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Riley-Day Syndrome
Riley-Day Syndrome
What is Riley-Day Syndrome?
- autonomic nervous system malfunction
- passed down genetically: both parents must carry the defective gene
- inefficient splicing of the IKBKAP gene on the 9th chromosome causes a lower production rate of a protein called IKAP
- IKAP is necessary in the growth, development and functioning of the sensory and autonomic nervous system
What are the symptomes of
Riley-Day Syndrome?
- symptoms are present at birth and grow worse over time
- most common symptoms:
- decrease in sense of taste
- constipation, diarrhea and vomiting (vomiting spells can occur every 15-20 minutes and can last more than 24 hours)
- dry eyes/lack of tears when crying
- inability to feel pain and changes in temperature
- poor growth, coordination and unsteady walk
- frequent fevers and pneumonia
- seizures
- skin blotching
- unstable blood pressure
- associated with a shortened lifespan
- experience episodes of vomiting, high blood pressure,
increased heart rate, sweating and fever (a.k.a. an autonomic crisis and often requiring hospitalization)
Is there a way to treat Riley-Day Syndrome?
- no cure for it so far
- research that focuses on IKAP production by studying the splicing defect
- preventative treatments:
anticonvulsant therapy for seizures
medicines to control vomiting
medicines to prevent dry eyes
physical therapy of the chest
providing enough nutrition and fluids
- medications that can regulate cardiovascular, respiratory, and gastrointestinal function
- therapies to improve strength and speech development
- various surgeries can be done to help decrease the symptoms, to make the patient more comfortable:
- fundoplication
- gastrostomy
- spinal fusion
- tear duct cautery
How to test for Riley-Day Syndrome?
- normally diagnosed during early childhood
- absent/decreased deep tendon reflexes
- lack of a response to histamine injection
- lack of tears with crying
- low muscle tone
- repeated episodes of high blood pressure
- severe scoliosis
- test blood for mutated IKBKAP gene
- DNA testing is very accurate for diagnosis (prenatal included) and determining carriers
Interesting facts about
Riley-Day Syndrome
- major cause of death is the result of a pulmonary complication
- fewer than 350 people have Riley-Day Syndrome
- discovered in 1949 by physicians Conrad Riley and Richard Day
- most common in people of Ashkenazi Jewish heritage (founders effect)
- 1 in 300 people carry the gene in the general population and 1 in 30 in the Ashkenazi Jewish population
- in 1970, there was a 50% chance a child diagnosed would live passed the age of 5, but now they have a 50% chance of surviving until the age of 40
- 25% chance with each pregnancy that the child will be affected if both parents carry the gene
- gene that causes Riley-Day Syndrome was discovered in 2001, 52 years after the disease was discovered