The journalist Jordi Évole recently acknowledged in an interview on the program El Hormiguero, of Antena 3, that he suffers from a rare disease called cataplexy. It is a neurological disease characterized by causing, in its crises, a sudden loss of muscle tone, even causing the patient to fall to the ground or be unable to hold things with his hands. Dr. García-Borreguero, specialist in Neurology, director of the Sleep Research Institute and member of Top Doctors, explains in detail what it consists of and how it should be treated.
What exactly is cataplexy and is it a serious disease?
Cataplexy or cataplexy is a symptom of a disease called narcolepsy. However, while narcolepsy is characterized by causing severe, almost permanent daytime drowsiness in the patient, cataplexy consists of a sudden loss of muscle tone, which lasts a few seconds or minutes.
It usually occurs in response to an intense emotional stimulus (often laughter, but sometimes it can also be caused by a fright, an argument, etc.). It can affect the entire musculature in general, causing the person to fall to the floor, or affect the orofacial muscles, which is more common (causing difficulty in pronouncing or speaking), affect the forearms and cause things to fall from the hands, or even the musculature of the knees (blocking them or causing the patient to lose balance). The most characteristic feature is that, during the attacks, the person remains conscious.
It is usually not a serious pathology, although it can cause discomfort to the sufferer and create embarrassing social situations. However, when it affects the anti-gravity musculature, it can cause falls and fractures, especially in the elderly.
Why does cataplexy occur and are there patients with a greater predisposition?
As already mentioned, it does not occur as an isolated symptom but in the context of narcolepsy. The cause of this neurological disease lies in the lack of a brain substance, orexin, which is responsible for maintaining the state of wakefulness (hence its absence leads to drowsiness), as well as for regulating muscle tone (which sometimes leads to sudden loss of muscle tone). Cataplexy is a reflection of a disorganization of nocturnal sleep, with sleep intrusions.
What are the signs of cataplexy and when should we be alerted?
Cataplexy may debut with sudden falls, or episodes of weakness in the face, arms or legs. Cataplexy is a typical symptom of a chronic disease, narcolepsy, so that, if it appears, a specialist in Neurology or Sleep Medicine should be consulted, even if its presence is mild.
Other symptoms of narcolepsy, such as daytime hypersomnolence, entail a loss of academic or work performance, as well as a risk of occupational or even traffic accidents, 7 times higher than normal.
How to diagnose cataplexy and differentiate it from other pathologies?
The diagnosis of cataplexy as such is clinical. However, to diagnose narcolepsy (cataplexy being a part of the broader disease), requires sleep laboratory tests (sleep study and multiple latency test), as well as some immunology test (HLA). Sometimes it is necessary to do a lumbar puncture.
How is cataplexy treated?
Cataplexy, if severe or frequent, may require specific pharmacological treatment. In the European Union there are several drugs authorized for this purpose.