...Bryant Irawan Dr. Brutlag BIOCHEM 158 Due April 08, 2013 Mendelian Disease Case Project 1. The genetic disease I have chosen is narcolepsy. The OMIM url can be found here: http://www.omim.org/entry/161400. 2. 1,2Narcolepsy is a neurologic sleep disorder characterized by excessive daytime drowsiness and the inability to properly regulate sleep cycles. Thus, narcoleptics experience REM sleep, the deepest stage of sleep when dreaming occurs, within five minutes of sleep onset. Narcoleptics may also experience cataplexy, sudden loss of muscle tone, when experiencing strong emotions including laughter, fear, excitement, etc. When waking up or during sleep onset, narcoleptics often experience sleep paralysis, a temporary state of complete loss of muscle control. Sleep paralysis occurs when the brain believes REM sleep is occurring even though one is already awake or just about to sleep so it is easy to see how narcoleptics who have trouble regulating sleep cycles also frequently experience sleep paralysis. Besides sleep paralysis, hallucinations are also common during waking up or sleep onset. For almost all cases, narcolepsy is caused by the lack of a brain neurotransmitter called hypocretin. The shortage then causes a shorter, improperly controlled sleep cycle. 3. Diagnosis of narcolepsy may seem simple enough because of its characteristic cataplexy symptom. However, while almost all cases of cataplexy are tied with narcolepsy, not all cases of narcolepsy are...
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