Narcolepsy is a rare, chronic disorder of the central nervous system. Only about one in 200-thousand people have it.
Balintfy: Imagine if you couldn’t control when and where you fall asleep.
Cizza: When patients have narcolepsy, they fall asleep during the day.
Balintfy: And suddenly says NIH researcher Dr. Giovanni Cizza. In narcolepsy, the brain is unable to control sleep-wake cycles. So people with narcolepsy experience irresistible and sudden bouts of sleep. Those sleep-episodes can last from a few seconds to several minutes. And Dr. Cizza adds they can be dangerous.
Cizza: So there was a lady suffering from narcolepsy who liked to swim, and she only could go if someone continuously watched her because she could fall asleep while swimming.
Balintfy: In addition to sleep episodes during waking hours, and sleep disturbances at night, another symptom of narcolepsy is called cataplexy.
Cizza: Which is when the muscle tone disappears.
Balintfy: The loss of muscle tone in cataplexy can be barely noticeable, involving no more than a momentary sense of slight weakness in a limited number of muscles, for example, mild drooping of the eyelids. The most severe attacks result in a complete loss of tone in all voluntary muscles; this leads to total physical collapse during which individuals are unable to move, speak, or even keep their eyes open. But even during the most severe episodes of cataplexy, people remain fully conscious, a characteristic that distinguishes it from seizure disorders. Dr. Cizza notes that narcolepsy, even though the symptoms are very specific and unusual, is often undiagnosed.
Cizza: I have seen many subjects with narcolepsy who told me that it took many, many years for them to be diagnosed and most often, they were diagnosed either by themselves or by friends, non-physicians.
Balintfy: He adds that usually, these subjects go through a lot of other diagnoses such as depression, hypothyroidism or chronic fatigue syndrome. But it may be many years before a diagnosis of narcolepsy.
Cizza: There was a gentleman who had narcolepsy for a long time, and when he was growing up, his father would scold him and sometimes beat him at the table because he would fall asleep at dinner. And then when maybe this person was 20, they invited for dinner a neurologist. It was a family friend. And the neurologist said, “I think your son has narcolepsy,” and that's how he was diagnosed.
Balintfy: Once diagnosed, dealing with narcolepsy is not easy. Dr. Cizza explains that there are medications that can treat narcolepsy, some are expensive, others have more side effects. But he adds that awareness of the condition is also a big help.
Cizza: Unfortunately there is not the same awareness about the consequences of narcolepsy. For example, some of these subjects are discriminated because they are seen as lazy.
Balintfy: But Dr. Cizza points out that people with narcolepsy can manage the condition and be very successful.
Cizza: If you adjust the environment, not too much, but if they can take let's say 10-15 minutes nap, they do okay; they do fine. But unfortunately, this is not always possible.
Balintfy: Narcolepsy affects both males and females equally and appears throughout the world. It most often starts in childhood or adolescence, and is lifelong. Dr. Cizza is currently conducting a research study on narcolepsy at the NIH Clinical Center.
Cizza: We are doing this study because these subjects may also have alteration in their metabolism and we think that they may have problems in keeping their weight down unless they exercise rigidly.
Balintfy: Dr. Cizza explains that the gene involved in narcolepsy is also involved in weight gain, in fact, obesity in some, even though they are not necessarily eating more calories, rather burning less. For more information about narcolepsy, visit www.ninds.nih.gov/disorders/narcolepsy. For NIH Radio, this is Joe Balintfy— NIH...Turning Discovery Into Health®