Narcolepsy: a daytime sleepiness

Narcolepsy is a chronic neurological syndrome with sleep disorders. This disease is characterized by excessive daytime sleepiness with invincible sleep crises, cataplexy (emotion-induced falls) and other abnormal manifestations of REM sleep such as sleep paralysis (paralysis of the body at the beginning or end of sleep) and hypnagogic or hypnopompic hallucinations (at the beginning or end of sleep). To these symptoms are added other symptoms such as nocturnal sleep disorder and automatic behavior (repeating a senseless activity). The estimated prevalence is 0.05% of the general population. This disease usually appears in the first two decades of life, with an average age of onset of 16 years.

Its etiology is unknown. It has been postulated to be related to genetic and acquired factors. A familial presentation has been found in 4 to 7%, associated with a multifactorial inheritance that includes genetic and environmental factors. As for genetic factors there are several markers, the most frequently related is HLA-DQBA* 0602 on chromosome 6, which has been related to an immunological basis of this disease associated with the decrease of hypocretin (neuropeptide involved in the wake-sleep cycle) in neurons of the hypothalamus in genetically predisposed patients.

Its diagnosis is based on clinical criteria and neurophysiology tests such as polysomnography and multiple latency tests.

The treatment of this disease is complex, based on non-pharmacological and pharmacological measures. Non-pharmacological measures include scheduled daytime naps and sleep hygiene measures. Drugs used in patients with narcolepsy include modafinil and methylphenidate. Tricyclic antidepressants, selective serotonin reuptake inhibitors, selective serotonin and noradrenaline reuptake inhibitors, selegiline and sodium oxybate are used in the treatment of patients with cataplexy.

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The most important factor in these patients is early diagnosis and treatment to improve their quality of life.