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Dysautonomia awareness month

 Department of Medicine, Federal University of Santa Maria, Santa Maria, Brazil

Date of Submission14-Mar-2020
Date of Decision07-Jul-2020
Date of Acceptance07-Jul-2020

Correspondence Address:
Jamir Pitton Rissardo,
Rua Roraima, Santa Maria, Rio Grande Do Sul
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjdrdypu.mjdrdypu_94_20

How to cite this URL:
Rissardo JP, Fornari Caprara AL. Dysautonomia awareness month. Med J DY Patil Vidyapeeth [Epub ahead of print] [cited 2021 Dec 6]. Available from: https://www.mjdrdypv.org/preprintarticle.asp?id=320710

Dear Editor,

We read the article entitled “Cranial Manifestations of Neurofibromatosis Type 2: A Rare Case Demonstrating 15 Intracranial Lesions” on the esteemed “Medical Journal of Dr. D. Y. Patil Vidyapeeth” with great interest. Kharat et al. reported a case a young female who presented with headache and blurred vision. A brain magnetic resonance imaging was performed, and a diagnosis of neurofibromatosis (NF) Type 2 was done.[1]

NF is considered a neurocutaneous/phakomatosis disorder, which can involve the peripheral nervous system. The autonomic nervous system (ANS) is one of the structures that can be affected by this disorder due to the formation of multiple neuromas. This clinical manifestation is more common with the NF Type 1, but the Type 2 was already described.[2]

Here, we would like to address dysautonomia, which is a term used to describe several different medical conditions that generally involve malfunction of the sympathetic or parasympathetic components of the ANS. In this way, October is considered the dysautonomia awareness month, and we would like to discuss some facts of this dysfunction, and update information showed by recent studies in this field.[3]

The ANS is responsible for the control of total body homeostasis, which includes but not limited to the control of heart rate and blood pressure, sweating and shivering, gut coordination and glands, urinary motility, and vision focus. The malfunction of this system, when secondary, is linked with the worst prognosis of the basal disease. Furthermore, sometimes the dysfunction itself could lead to an important functional impairment that substantially affects the patient's life activities.[4]

Autonomic dysfunctions affect more than seventy million people worldwide. The most frequent form of dysautonomia, which affects more than ten million individuals, occurs in the cardiovascular control sphere and consists of an abnormal vasovagal response leading to syncope. In this context, another common type described is the postural orthostatic tachycardia syndrome, also known as POTS, which is estimated to impact 1 every 100 adolescents, but the true prevalence is probably higher due to underdiagnosis. This condition occurs when the patient changes from lying to standing causes an abnormal increase in the heart rate.[3],[4]

One of the most published themes in the last 5 years was about Familial Dysautonomia, also known as Riley–Day syndrome, and Hereditary sensory and autonomic neuropathy Type III (HSAN-III). This term represents a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.[5] The major features of the disease can be present at birth and are attributed to abnormal development and progressive degeneration of the sensory and ANSs.[6]

We would like to highlight two interesting facts about HSAN-III. First, a better description of the pathophysiological mechanism that was only possible due to the development of rat models with this neuropathy. The studies suggested that this disorder probably occurs due to a point mutation in the intron 20 of the IKBKAP gene resulting in a severe reduction in the expression of IKAP. Moreover, the study of Yannai et al. with cells evaluated a possible treatment to this dysfunction, and their study suggested that the food supplementation with phosphatidylserine elevates IKAP levels leading to an increase in the level of the full-length IKBKAP transcript, which in turn decreases the nerve degeneration.[7]

Patients, caregivers, and anyone who wants to know more about this group of malfunctions can search for free on the official site of this disorder that is http://www.dysautonomiainternational.org/. The mission of the “Dysautonomia International” is to identify the causes and cures for all forms of dysautonomia and to enhance the quality-of-life of people currently living with these illnesses.[3] We made a figure with the shape of the letter “D” in the word-cloud to remember dysautonomia and to promote the knowledge about this umbrella term [Figure 1].
Figure 1: D-shape word-cloud. The letter “D” represents dysautonomia

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  References Top

Kharat A, Sneha S, Sharma E, Chauhan V. Cranial manifestations of neurofibromatosis type 2: A rare case demonstrating 15 intracranial lesions. Med J DY Patil Vidyapeeth 2020;13:169.  Back to cited text no. 1
  [Full text]  
Rissardo JP, Caprara AL. Neurofibromatosis two presenting with bilateral sixth and seventh nerve palsies. Neurol Clin Neurosci 2019;7:47.  Back to cited text no. 2
International D. What is Dysautonomia?; 2020. Available from: https://dysautonomiainternational.org/page.php?ID=34. [Last accessed on 2020 Mar 14].  Back to cited text no. 3
Sánchez-Manso JC, Dulebohn SC. Autonomic Dysfunction. StatPearls. StatPearls Publishing; 2017.  Back to cited text no. 4
Calabresi P, Mercuri N, Bernardi G. Familial dysautonomia (Riley-Day Syndrome): A Review. In: Peripheral Dopamine Pathophysiology. CRC Press, Boca Raton, Florida, United States. 2019:4.  Back to cited text no. 5
Dietrich P, Dragatsis I. Familial Dysautonomia: Mechanisms and Models. Genet Mol Biol 2016;39:497-514.  Back to cited text no. 6
Yannai S, Zonszain J, Donyo M, Ast G. Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients. PLoS One 2019;14:e0211602.  Back to cited text no. 7


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