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At the time the article was created Subhan Iqbal had no recorded disclosures.View Subhan Iqbal's current disclosures
At the time the article was last revised Daniel J Bell had no recorded disclosures.View Daniel J Bell's current disclosures
Riley-Day syndrome, also known as familial dysautonomia, is a rare neurodevelopmental genetic autosomal recessive disorder that primarily affects the autonomic nervous system 1,9.
Familial dysautonomia is more common in Ashkenazi Jews 1.
Other presenting features include 3,5,7,10:
- seizures 3
- diarrhea or constipation
- recurrent vomiting
- sensory loss, particularly affecting taste, pain and temperature
- neuropathic joints 7
- dry eyes
- learning difficulties
- chronic kidney disease
- postural hypotension
In familial dysautonomia, a decreased amount of dopamine beta-hydroxylase in the blood is noted leading to recurrent vomiting. Moreover, two mutations of chromosome 9 have been identified, primarily in the IKBKAP gene 6. There is also a decreased number of unmyelinated nerve fibers that is thought to cause a sensory neuropathy 5.