La palabra “Idiopathic” is one of the most used in medicine. Quizás el lector la haya escuchado o leido alguna vez en un informé medico. And paradoxical, idiopathic results mean that we do not know the origin or the cause of a health problem. The idiopathic nurses, entones, their water bodies in which the medicine does not know what he produced. And it has occurred in more than 70% of cases of epilepsy almost certainly. For sure something is changing in the last few years.
The epilepsy is a neurological disorder that affects cases 1 out of every 100 people, for it is calculated that hay alrededor de mid million of people with epilepsy in Spain. It is present in all cases, although it is more frequent in those cases in which the brain is subject to more changes and evolution, as in nines (by neurodesarroll) or in adults (by neurodegeneration).
Síntomas
People with epilepsy, by definition, have a predisposition to present epileptic crisis, the cues can manifest in various ways:
– Una generalized convulsion with a loss of conscience (which the Mayor of the population identifies as an epileptic crisis)
But also with more common sins like:
– Sacudidas in a hurry
– Una disconnection of the medium with reaction to entorny (ausencia) or all types of subjective perceptions (from a sensation of “déjà vu” exaggerated to the appearance of sightings in the vision). Sufren also has other issues like:
– A social stigma classic that persists today
– Difficulties in the laboratory work
– Impossibility to drive vehicles and epileptic crises have not been controlled. This is an aspect of a piano, controlling the crisis. Today, with the antiepileptic modern treatments, a large majority of people with epilepsy have their crisis controlled and can have a normal life in all aspects.
Common treatment
Prohibition of probes, and already the a third of people with epilepsy, it is a refractory drug. It is said by many pharmacists that the patient tome (existen hoy en día more than 20 available in the market), the epileptic crisis followed by. And here is where the necessity (and the possibility) of precision medicine lies.
The epilepsy is treated classically in a very self-evident manner the cause, but in the last years we have seen that different causes require different treatment strategies. For many focal epilepsy, which depends on a lesion (foco) in a part of the cerebrum that generates the epileptic crisis, realizes a correct study with neuroimagen techniques and electroencephalogram of ultimate generation allows to realize an epilepsy surgery Eliminate crises. And now there are more “minimally invasive” surgeries, such as those performed in epilepsy centers that specialize in reading thermocoagulation. immunological origin (inflammation, tanning in these times COVID-19), the treatments tend to be immunomodulators.
Treatment of genetics
The great quality jump of the last years has been genetics. Genetic diagnostic techniques are based on the concept of “idiopathic” or “without a cause” in severe epilepsy, those that affect children and that are associated with intellectual disability, autism and other neurodegenerative problems.
Currently, with the Modern sequencing techniques, we are able to diagnose up to 50% of the antidotes considered “idiopathic”, reducing incontinence, the search query and the need to have a diagnostic.
Nine parents with epileptic encephalopathies or neurodegenerative problems (as this type of severe epilepsy is classified) suffers from the name “diagnostic odor”: an incessant search for answers that will last for a long time. Pero the genetic diagnostic alone should have avoided the diagnostic odor. Also allowed to make a precision medicine in more cases. Assuming that there is a mutation in SCN1A (the most frequently mutated gene in epilepsy), it is not possible to use any drugs for the empirical person, or to use other specific ones to help more.
And the supply of precision medicine does not have to grow. The rare diseases, classically “hearing-impaired” of investigation and treatment, are currently receiving a mayor’s attention and the clinical trials with specific therapies are multiplied. For example, with cannabidiol or CBD (a cannabis derivative) or fenfluramine in Dravet syndrome, or with ganaxolone in CDKL5 deficiency syndrome, to give some examples of clinical trials of our team.
An integral vision, with specific guided therapies, avoiding judgment, and paying attention to other aspects of illness, such as cognitive problems, social relationship or movement, are fundamental to helping these people and their families. More so, in the current context, in which the COVID-19 pandemic has increased the access of these families to assistance resources and necessary care. Without embarrassment, the truck of precision medicine is unprofitable, and many more diagnostic and personalized therapies are available to come in the near future.
Hablamos del Dr. Ángel Aledo Serrano, Neurologist Specializing in Epilepsy at the Corachan Clinic
Web: www.epilepsiagenetica.com
Twitter: @Aaledo