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A Rare Case Report on Familial Dysautonomia (Familial Dysautonomia)

Mishra Anuj, Sinha Abhishek, Srivastava Sunita, Giri Debanti


Familial dysautonomia (FD) is a genetic disorder of neurodevelopment within classification of both hereditary sensory and autonomic neuropathies, each caused by a different genetic error. IKBKAP gene is responsible for the genetic error in FD. The maintenance and development of neurons occur because there is neuropathological and clinical progression. Pathological alterations consist of decreased unmyelinated and small-fiber neurons. The clinical features reflect involvement of both sensory and autonomic neurons. Sensory loss includes impaired pain and temperature appreciation. Autonomic features include dysphagia, vomiting crises, blood pressure lability, and sudomotor dysfunction. Central dysfunction includes emotional lability and ataxia. With supportive treatment, prognosis has improved greatly. About 40% of the patients are over 20 years of age.


Keywords: familial dysautonomia, Riley–Day syndrome, genetic disorder, neuropathological progression

Cite this Article


Mishra A, Sinha A, Srivastava S, et al. A Rare Case Report on Familial Dysautonomia. Research and Reviews: Journal of Neuroscience (RRJoNS). 2015; 5(1): 15–18p.

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