Abstract
Restless leg syndrome (RLS) or Willis-Ekbom disease (WED) is an under-diagnosed, chronic, and progressive primary sensory-motor disorder. It is characterized by an uncontrollable urge to move the legs due to uncomfortable and sometimes painful sensations, with a diurnal variation. RLS can lead to severe sleep disturbances, a usual cause of consultation. The pathophysiology is known partially, and it is believed that there is an association between the different variants of genetic mutations combined with dopaminergic and brain iron dysregulation, which plays an important role. The data used for this study were extracted from the articles found in the PubMed database that discuss different gene variants, pathophysiology, and various methods of treatment. They also highlight the role of iron in the pathogenesis of RLS as it is required for the synthesis of tyrosine hydroxylase, which is the rate-limiting step for dopamine synthesis. This review article provides a clinically useful overview of RLS in terms of pathophysiological findings, its genetic associations, and therapeutic options by using the currently available literature. Because RLS presents with vague symptoms and shares similarities with many other diseases, it might be overlooked by many physicians resulting in underdiagnosis and under-treatment. While these discoveries provide a breakthrough in understanding the details of RLS, further studies are recommended as these studies are limited to animal models and provide a limited representation of the general population.
Highlights
Background"A good laugh and a long sleep are the two best cures for anything," an Irish Proverb.Received 09/09/2020 Review began 09/27/2020 Review ended 10/10/2020 Published 10/14/2020Sleep is an essential part of our life
They highlight the role of iron in the pathogenesis of Restless leg syndrome (RLS) as it is required for the synthesis of tyrosine hydroxylase, which is the rate-limiting step for dopamine synthesis
Because RLS presents with vague symptoms and shares similarities with many other diseases, it might be overlooked by many physicians resulting in underdiagnosis and under-treatment
Summary
"A good laugh and a long sleep are the two best cures for anything," an Irish Proverb. One of the most common etiologies associated with secondary RLS is iron deficiency in the brain tissue This concept has been supported by several CSF studies that show symptom improvement with iron supplementation [27]. Similar studies conducted on the Saudi population concluded that ESRD patients undergoing dialysis are more susceptible to insomnia, excessive daytime sleep (EDS), and RLS than healthy people of the same age [38]. In 2011, Schormair et al conducted a case-control study of 341 ESRD patients with RLS to determine the association with MEIS1, BTBD9, MAP2K5/SKOR1, and PTPRD. They found that patients who have ESRD have an association with the genetic variant BTBD9 [40]. Further research is recommended on adenosinergic, glutamatergic neurotransmission, and NO modulating agents as they may treat RLS more effectively than the current regimens
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