Riley-Day Syndrome (Familial Dysautonomia)
A hereditary sensory autonomic neuropathy primarily affecting the sympathetic nervous system.
Familial dysautonomia is an autosomal recessive disorder found predominantly in the Ashkenazi Jewish population. It is due to a mutation in the IkB kinase-associated protein (IKBKAP) gene which codes for the IKAP/hELP1 protein on the 9q31-q33 locus. This leads to the downregulation of genes involved in the expression of neurotransmitters critical for the development, differentiation, and survival of unmyelinated and small myelinated peripheral sensory and autonomic neurons. The sympathetic afferent and efferent pathways are both involved leading to impaired transmission of baroreceptor, visceral, and chemoreceptor information. There may also be a reduced number of parasympathetic ganglion cell complexes.
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