Narcolepsy Clinical Trial - Signs and Symptoms of Narcolepsy

1. Why Am I So Tired All the Time? Signs & Symptoms of Narcolepsy It is normal to feel tired sometimes. But if you find yourself constantly overwhelmed by fatigue and sleepiness throughout the day, it might be something more than just a busy schedule or a bad night's sleep. This persistent tiredness could be a sign of narcolepsy, a chronic sleep disorder that affects the brain's ability to regulate sleep-wake cycles. If you have narcolepsy, you may experience uncontrollable bouts of falling asleep during the daytime, even after a good night’s rest. So basically, you may unwillingly fall asleep even if you are in the middle of an activity like talking, eating, or even driving. You may also experience other symptoms like sudden muscle weakness while awake, hypnopompic hallucinations, and total paralysis. Understanding Narcolepsy Narcolepsy occurs when your brain fails to control your ability to sleep or stay awake. It is a lifelong condition and comes in several distinct types, but the two major types are: Type 1 narcolepsy: A more severe form of the disorder. It involves a combination of excessive daytime sleepiness and cataplexy, which is a sudden, brief loss of voluntary muscle control triggered by strong emotions such as laughter or anger. You also get episodes of unstoppable sleep attacks, sleep paralysis, extreme sleepiness during the day, and vivid or scary hallucinations. Type 1 narcolepsy is closely associated with a deficiency in a brain chemical called hypocretins also known as orexins. Type 2 narcolepsy: This does include cataplexy. People with this type can typically experience the same excessive daytime sleepiness as those with Type 1, but they have normal levels of hypocretin. While the symptoms can be disruptive, they are generally less severe compared to Type 1 narcolepsy. Narcolepsy is a rare condition affecting between about 50 and 67 in every 100,000 people in the United States, Western Europe, and Asia. It has no cure but can be managed with treatments and lifestyle changes. If undiagnosed or left untreated, narcolepsy can affect your social, psychological, and cognitive function and inhibit work, academic, and social activities.

2. Narcolepsy Risk Factors The exact cause of narcolepsy remains unknown. However, there are several risk factors that may contribute to the development of narcolepsy: Family History: Genetic factors play a role in narcolepsy. However, the risk of inheriting it from a parent is relatively low, with only about 1 to 2% of those with a family history developing the condition. Loss of Hypocretin-Producing Cells: Narcolepsy, particularly Type 1, is often linked to a significant reduction in the brain's hypocretin-producing cells. These cells are crucial for regulating wakefulness. The loss is believed to possibly stem from an autoimmune reaction where the body's immune system mistakenly attacks these cells, although the precise mechanisms behind this remain unclear. Brain Injuries: Narcolepsy can sometimes be triggered by physical damage to parts of the brain that regulate sleep, such as from traumatic brain injuries, brain tumors, or other neurological conditions. Signs and Symptoms of Narcolepsy Narcolepsy symptoms vary from one person to the next, and include: Excessive Daytime Sleepiness (EDS) EDS is often the most prominent symptom. You may feel overwhelmingly sleepy during the day despite getting enough sleep at night. EDS makes it hard to stay awake and focus on routine activities. It can happen anywhere, at any time. An episode may last a few minutes up to around thirty minutes. Sudden Loss of Muscle Tone (Cataplexy) Cataplexy is a sudden, temporary loss of muscle tone mostly triggered by strong emotions like laughter, fear, surprise, or even anger. It can be as mild as a slight drooping of the eyelids or as severe as a total body collapse, although you remain conscious during these episodes. Sleep Paralysis and Hallucinations Sleep paralysis and hallucinations are two particularly unsettling symptoms of narcolepsy that can impact your sleep-wake cycle significantly. Sleep Paralysis: This can occur when you wake up or fall asleep. During these moments, you might be completely unable to move or speak for a few seconds to a few minutes. It's as though your body is still asleep while your mind is awake and aware. Hallucinations: These occur alongside sleep paralysis or just before falling asleep (hypnagogic) or upon waking (hypnopompic). The hallucinations are vivid and often involve seeing, hearing, or feeling things that aren't there. They can be highly realistic and startling. For example, you might see someone in your room who isn't there or it can feel like you're being touched or grabbed. Disrupted Nighttime Sleep While narcolepsy might make you feel very sleepy during the day, it contrarily can cause difficulties maintaining sleep at night. You might experience frequent awakenings that make it hard to get a restful night's sleep.

3. Automatic Behaviors During brief moments of sleep (microsleeps), you might continue to perform routine tasks without any awareness of doing them. For example, if you fall asleep while washing dishes, you may continue the activity for a few seconds or minutes without consciously knowing what you’re doing. This is common when you engage in habitual activities like driving or typing. You cannot remember your actions, and your performance is almost always impaired. Later, you might not remember performing these tasks. Diagnosis Diagnosing narcolepsy involves a combination of patient history, physical exam, and specific medical tests to confirm the presence of the disorder and rule out other sleep disorders, such as sleep apnea. If your doctor suspects narcolepsy, they will do a polysomnography test to monitor various physical activities while you sleep and a multiple sleep latency test (MSLT) to see how quickly you fall asleep in quiet situations during the day and how quickly you enter REM sleep. Your doctor will also do a spinal tap to collect the cerebrospinal fluid. Studies have shown that measuring the hypocretin levels in your cerebrospinal fluid can help diagnose narcolepsy. Treatment Options for Narcolepsy Treating narcolepsy typically involves a mix of medication and lifestyle changes to manage the symptoms effectively. These medications include stimulants to help maintain wakefulness, tricyclic antidepressants to control cataplexy and other REM-related symptoms, and sodium oxybate for both sleep disruption and cataplexy. Scheduled naps during the day can also be a simple yet effective way to manage excessive daytime sleepiness. However, some of the medications, particularly stimulants, have a potential for abuse due to their effects on alertness and mood. This issue, combined with the complex nature of sleep and its regulation by the brain, makes sleep medicine a challenging area of pharmaceutical research. Finding treatments that are both effective and safe, with minimal potential for abuse, can be a very delicate balance.