9/16/2023 0 Comments Hypocretin deficiency treatment![]() ![]() However, there is lack of sufficient data in establishing routine HLA screening as a diagnostic test. Some rare cases lack the classic HLA DQB1. About 85% people having symptoms of narcolepsy with cataplexy are positive for HLA DQB1*0602, often simultaneously with HLA DR2 (DRB1*1501) and only 50 % with narcolepsy only have a positive HLA DQB1*0602 haplotype. Recent studies have also established a close link between narcolepsy and streptococcal infections and H1N1 vaccination. People who are first degree relatives are 10 to 40 times more vulnerable to develop narcolepsy compared to general population. Environmental factors have also played a role with 25% to 31% concordance in monozygotic twins. Most cases of narcolepsy are sporadic with some with familial clustering. The incidence rate was highest in the second decade of life followed by third, fourth and fifth decades respectively. The data on incidence of narcolepsy is limited with 0.74/100000 persons -year with both narcolepsy with cataplexy and 1.00 with both narcolepsy with cataplexy and narcolepsy without cataplexy with (1.72 for men and 1.05) for women. The variances in prevalence could be attributed to the difference in the frequency of the HLA DQB1*0602 phenotype amongst the different geographical populations. In counties like japan and Israel the prevalence has been found to be 0.16% and 0.0002% respectively IN countries like US prevalence rates 19-56/100000 have been found. The epidemiology of narcolepsy is highly variable with prevalence of about 47/100000 in five European countries like Spain, Portugal, Italy, Germany and UK. Narcolepsy may be found in association with cataplexy or without and is associated with other sleep disorder like obstructive sleep apnoea and REM sleep behaviour disorder. Other variable symptoms include blurry vision, loss of memory, loss of concentration, fragmented night sleep and automated behaviour. The presentation is however variable and not all patient show the classic tetrad (2). Narcolepsy a REM sleep disorder is characterized by a tetrad of symptoms including excessive day time sleepiness with sleep attacks that start with REM sleep, hypnogogic hallucinations /hypnopompic hallucinations, sleep paralysis and cataplexy (un anticipated loss of bilateral muscle tone. The purpose of this review is to provide an in-depth critical appraisal ship for the various treatment and diagnostic strategies for narcolepsy. Pharmacological therapy includes therapies like Modafinil and night time sodium oxybate. A definitive cure for narcolepsy is not known, but pharmacological therapy with certain lifestyle changes are the main options. Diagnosing narcolepsy can be challenging with help from clinical signs and symptoms, serum hypocretin/orexin levels and certain laboratory sleep tests. The pathogenesis behind narcolepsy is found to be due to degeneration of hypocretin/orexin secreting neurones in the central nervous system due to disorder of human leukocyte antigen DQB1*0602.Narcolepsy is a debilitating disorder which causes intense functional impairment and hampers quality of life. Narcolepsy may present itself long with cataplexy or without cataplexy. Narcolepsy is a sleep disorder known and studied about from time to time is a sleep disorder characterized by a combination of myriad of symptoms including excessive day time sleepiness with recurrent irresistible sleep attacks, hypnogogic hallucinations, hypnopompic hallucinations, sleep paralysis and cataplexy (sudden and bilateral loss of muscle tone. ![]()
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