A Rare Case Report on Familial Dysautonomia (Familial Dysautonomia)

Authors

  • Mishra Anuj Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental & Medical Sciences, Raebareily Road, Lucknow, Uttar Pradesh, India
  • Sinha Abhishek Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental & Medical Sciences, Raebareily Road, Lucknow, Uttar Pradesh, India
  • Srivastava Sunita Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental & Medical Sciences, Raebareily Road, Lucknow, Uttar Pradesh, India
  • Giri Debanti Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental & Medical Sciences, Raebareily Road, Lucknow, Uttar Pradesh, India

DOI:

https://doi.org/10.37591/rrjon.v5i1.982

Abstract

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

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.

 


Downloads

Published

2019-03-28

Issue

Vol. 5 No. 1 (2015)

Section

Case Study

License

Declaration and Copyright Transfer Form

(to be completed by authors)

I/ We, the undersigned author(s) of the submitted manuscript, hereby declare, that the above manuscript which is submitted for publication in the STM Journals(s), is not published already in part or whole (except in the form of abstract) in any journal or magazine for private or public circulation, and, is not under consideration of publication elsewhere.

  • I/We will not withdraw the manuscript after 1 week of submission as I have read the Author Guidelines and will adhere to the guidelines.
  • I/We Author(s ) have niether given nor will give this manuscript elsewhere for publishing after submitting in STM Journal(s).
  • I/ We have read the original version of the manuscript and am/ are responsible for the thought contents embodied in it. The work dealt in the manuscript is my/ our own, and my/ our individual contribution to this work is significant enough to qualify for authorship.
  •  I/We also agree to the authorship of the article in the following order:

Author’s name                                    

 

1. ________________

2. ________________

3. ________________

4. ________________

 

We  Author(s) tick this box and would request you to consider it as our signature as we agree to the terms of this Copyright Notice, which will apply to this submission if and when it is published by this journal.