Abstract
Familial dysautonomia (FD) is a rare genetic disease belonging to a group of disorders known as hereditary sensory and autonomic neuropathies. Incomplete sensory and autonomic neuron development results in general sensory dysfunction and variable autonomic dysfunction. Currently, only about 50% of FD patients reach 30 years of age.1 With rare exception, FD, also known as HSAN (or HSN) type III and Riley-Day syndrome, affects patients of Ashkenazi Jewish descent and is included among the Jewish genetic diseases (e.g., Gaucher disease, Tay-Sachs disease).
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Josaitis, C.A., Matisoff, M. (2002). Familial Dysautonomia in Review: Diagnosis and Treatment of Ocular Manifestations. In: Sullivan, D.A., Stern, M.E., Tsubota, K., Dartt, D.A., Sullivan, R.M., Bromberg, B.B. (eds) Lacrimal Gland, Tear Film, and Dry Eye Syndromes 3. Advances in Experimental Medicine and Biology, vol 506. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0717-8_9
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DOI: https://doi.org/10.1007/978-1-4615-0717-8_9
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