Can you shake to death? The answer is yes. We are talking about uncontrolled movements, muscles that are constantly twisted senselessly, day and night, for whole days, without the possibility of resting, eating, or anything else. is what is called “going into status” or “dystonic storm” and, if left untreated, it can lead to death.
This condition is an extreme situation of dystonia, a movement disorder that causes involuntary contractions of the muscles that result in repetitive movements, sometimes painful, that affects a group of muscles or all of them, and that can be of primary cause or derived from another underlying pathology. Considered a rare disease, and although there is still no cure today, the good news is that it can be treated which, at least allows those affected a better quality of life.
And that is what happened to Dani, the protagonist of this story: “He was referred to us from another center because he has the GNAO1 gene mutation that causes significant intellectual disability and, above all, in hyperkinetic movement (excess movement), who after hip surgery entered a state in which this movement was constant and his life was compromised,” he says. Mª Concepción Miranda, neuropediatrician and head of the Pediatric Movement Disorders Unit from the Gregorio Marañón Hospital in Madrid. “We had had a patient in a similar situation before and she had responded well to DBS. She was used as a palliative to save her life because she had been like this for a week, “she continues.
«After the hip intervention, he entered status and ended up in the ICU where, sedated and all, he moved. Anesthetized enough to operate on him and he wouldn’t stop. So it had to be done urgently. She spent 20 days in the ICU and underwent surgery because her life was in danger. She was taking a lot of medication and vital organs began to fail. It had been seen that in people with Dani’s disease it had gone well, but it seemed like science fiction, “says Vanessa Navarro, Daniel’s mother, who was 14 years old at the time. «I thought, they are going to put some electrodes in his brain. They are going to drill my son’s head in… but it was what had to be done to save his life.”
«It had already been seen that in people with Dani’s disease it went well, but it seemed like science fiction»
«We explain to the parents what is done specifically to get out of this “status” situation, as it is called medically when the movements do not stop, not for other things related to the disease. It is a non-aggressive intervention, it has little risk of losing blood or destabilizing the patient and, on the other hand, it reports a high benefit,” he explains. Olga Mateo, neurosurgeon from the same center, which is a reference in Spain for this type of approach.
In Pediatrics they have treated about 50 cases and in total, about 100 including those of secondary causes. They operate about 4-6 patients with dystonia a year among adults, children, secondary… “it is a rare disease and the treatment is symptomatic, there is no cure,” he points out Beatriz De la Casa, neurologist at the Pediatric Movement Disorders Unit.
The first time that DBS was used in dystonia was in 1996 and, since then, its indication has been spreading. It is in 1999 when it begins to operate in the Marañón. «I was reluctant and at the beginning, there were many technical problems, software, with the electrodes… We were among the first, if not the first. In children, the first operated was in 2019», explains Matthew.
AND, What exactly does the operation consist of? “An electrode is placed on the internal globus pallidus (a specific area in the nucleus of the brain) and, when we stimulate it, we alter its function and achieve the disappearance of dystonia or chorea (another type of involuntary movement). Or in any case, a very noticeable improvement. It has already been shown that the status can be reversed,” says Dr. Mateo.
Planning is very important to see where the nuclei are, how to access them and not damage anything in the brain because, depending on how one enters, it can be done in an optimal or suboptimal way, says the neurosurgeon. «Sequentially, first a trephine is made on one side and then on the other. We put three microelectrodes in each one, even if they go to the same nucleus, in case there is an error, and we choose the one that is best placed, the optimal target, and we produce the stimulation on it. It is repeated on the other side and, with the help of resonance or scanner, we confirm that it is where we want and we connect the electrodes to a kind of pacemaker that generates the energy that, in children, we put in the gut. It is precision surgery », she continues.
Each electrode has four contacts. There are unlimited combinations and they are programmed in a personalized way the parameters in each case. In severe cases, stimulation begins after 24-48 hours and with Daniel there was an almost immediate improvement. «After two days the stimulator was activated and the chorea, which had a lot, was removed. They were adjusting it and lowering the dose of the medication and it was him again without having the movement all the time. Now he only suffers from dystonia with rigidity from time to time, “says his mother. «We program it with a tablet telematically in person. Since he underwent surgery, he has not had any dystonic storms again, “adds De la Casa.
In fact, he recently fractured his femur and “look how we were with the hip operation, but although he had some extra dystonia and had to take medication, thanks to the stimulator he was fine. Before, any pain triggered crises,” recalls Vanessa.
“There is little knowledge about the possibilities of this technique, even among doctors”
Although the road for her and her son is far from easy, the intervention at least makes life a little easier for them. And that, as she jokes, now, she has to “carry” her son: “It’s like with mobiles, that you put them on a base; here the charger is in the gut and you have to bring a kind of base there that connects with the charger and makes it charge. It takes a little over two hours. The battery needs to be charged once a week.. Set a fixed day, they told me, because if it runs out it would start moving again ». «Dani is a non-verbal child, but he finds out everything, he smiles at you… he has to be very still for that to connect well. I tell him that when the pot rings, let me know. You try to make a game », he adds.
In case of Dani is just one example of what can be achieved with this type of intervention which, on the other hand, is still little known even among doctors themselves. «We try to promote and make neuropediatricians aware of the possibilities of this therapy. In Pediatrics it is quite unknown, even in Neuropediatrics, and many times they are evicted when there is a treatment, “laments Miranda.
Today ECP is used in the most dysfunctional or difficult-to-control cases, “they are very fragile patients and it is a palliative treatment. But when the problem is just dystonia (and not another basic one), –as when it is genetic, a primary dystonia due to a mutation of the DYT1 gene, ECP is the “gold standard” of treatment– goals are more ambitious and that they can have a normal life”, concludes Dr. Miranda.