Hereditary sensory and autonomic neuropathy - type III
Key points
- Riley-Day syndrome is an inherited disorder that affects the function of nerves throughout the body.
- Riley-Day syndrome is inherited as an autosomal recessive trait, which means that a person must inherit the defective gene from both parents in order to develop the condition.
- DNA testing can be done by linkage analysis or direct mutation testing.
- Problems are treated as they occur, including treatment of aspiration pneumonia, anticonvulsant therapy if seizures are present, and liquid tears and bethanechol to prevent drying of eyes.
Alternative names
Familial dysautonomia; Riley-Day syndrome
Definition
Riley-Day syndrome is an inherited disorder that affects the function of nerves throughout the body.
Causes, incidence, and risk factors
Riley-Day syndrome is inherited as an autosomal recessive trait, which means that a person must inherit the defective gene from both parents in order to develop the condition.
It is found predominantly in people of European Jewish descent (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is rare in the general population, but not amongst Ashkenazi Jews, where the incidence is estimated to be 1 in 3,700 people.
Infants with this condition have feeding problems and develop pneumonia caused by breathing their formula and food into their airways. Vomiting and sweating spells begin as the infant matures. Young children may also have breath-holding spells that produce unconsciousness, since they can hold their breath for long enough to pass out without feeling the discomfort that normal children would.
A hallmark of Riley-Day syndrome is insensitivity to pain. This leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury, such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing. Bone and skin pain, including burns, are also poorly perceived. However, they can feel visceral pain, like menstrual cramps.
Seizures occur in almost 50% of affected children. They have acute problems with high and low blood pressure. They may have problems regulating their body temperature.
Symptoms
- a family history of Riley-Day syndrome
- Ashkenazi Jewish heritage
- feeding difficulties - poor sucking and poor ability to swallow, drooling
- breath holding
- sweating while eating
- protracted episodes of vomiting
- lack of response to painful stimuli
- seizures
- hypotonia, low muscle tone
- abnormal body temperature (high or low)
- abnormally high blood pressure occurs intermittently
- incoordination, unsteady gait
- an unusually smooth tongue surface (due to absence of fungiform papillae)
Written and revised by
David Cohen, M.D.
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