familial dysautonomia

Riley-Day syndrome or familial dysautonomia is a rare neurodevelopmental genetic autosomal recessive disorder that primarily affects the autonomic nervous system .


Familial dysautonomia saw in Ashkenazi Jews of Eastern European Jewish ancestry .

Clinical presentation

Recurrent aspiration pneumonia secondary to dysphagia is the main cause of recurrent hospital admissions and mortality . Other presenting features include seizures,  diarrhea or constipation, recurrent vomiting, sensory loss, particularly for taste, pain and temperature. Neuropathic joint, dry eyes, mental retardation, chronic kidney disease, lack of coordination and postural hypotension .


 In familial dysautonomia decrease amount of dopamine beta-hydroxylase in the blood is noted leading to recurrent vomiting. Moreover, two mutations of chromosome 9 identified primarily in IKBKAP gene . There is also a decreasing number of unmyelinated fiber documented that causes sensory neuropathy .

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