Warning Signs Of Niemann-Pick Disease

Difficulties Swallowing

Individuals with Niemann-Pick disease may also have difficulties swallowing, which is also called dysphagia. The symptoms may be related to ataxia. Ataxia can cause trouble with eating and swallowing, since patients have an impaired ability to control their movements. Dysphagia occurs when the nerves and muscles that move food through the esophagus and throat aren't working properly. The condition isn't always a sign of muscle issues, though, as it can also be caused by blockages in the esophagus or throat. Patients might have trouble completely swallowing liquids or foods on the first try. They may gag or cough when they swallow, and foods may come back up. It's also common for swallowing to cause pain, and for people to feel like food is stuck in the chest or throat. Some individuals even lose weight because they can't get enough food into their system.

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Sleep Disturbances

Sleep disturbances may occur in individuals with type C Niemann-Pick disease. These symptoms often mimic the symptoms of narcolepsy, including cataplexy, which is an uncontrollable, sudden muscle weakness that occurs during the day, often because of a strong emotion like laughter or excitement. Cataplexy doesn't occur in all type C patients, but it has been reported in some. In one study, all of the five type C patients observed had disrupted sleep. They slept less, had decreased sleep efficiency, had less REM sleep, and had less delta sleep than the control group of healthy individuals. During delta sleep, patients would have sudden increases in their muscle tone. The reason for the sleep disturbances is theorized to be related to decreased hypocretin levels. There are two main hypocretins in the body, hypocretin-1 and hypocretin-2. Both are made by a hormone that may be deficient in Niemann-Pick disease patients. Hypocretin plays an important role in regulating the sleep-wake cycle.

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