The goal is “to give families, patients and citizens a sign of hope”, to make known, “directly by doctors and researchers, all that is being done for these diseases, so as not to stop at the diagnosis, at what cannot be Do”. So Riccardo Zuccarino, physiatrist, clinical director of the Nemo Clinical Center in Trento, on the VI Day on Neuromuscular Diseases (GND) which is celebrated today, 18 March. The initiative, for the first time in Trento, is taking place simultaneously in 18 other Italian cities with seminars dedicated to deepening scientific knowledge and answering the questions of those experiencing a neuromuscular disease.
Diagnosis, treatments, multidisciplinary management and research are the topics that will be addressed together with the experts in a morning open to operators, caregivers, family members, patients, volunteers and all those who take part in the daily experience of the disease. “It is not a day dedicated to technicians and experts – explains Zuccarino – it is to disseminate and raise awareness” of what is happening “for neuromuscular diseases. In fact, a first part is foreseen in which the experts talk about the most marked pathologies and illustrate news and research in progress”.
The team of the Nemo Trento Clinical Center – which coordinates the Trentino initiative sponsored by the Autonomous Province, the Provincial Agency for Health Services and the University of Trento – participates in the seminar together with the Apss multi-zone neurology operating unit. The works are closed by a round table in which the territorial delegates of the patient associations participate in a debate open to the citizens.
“People with neuromuscular diseases – underlines Zuccarino, who is also an expert of the Aisla counseling center, the Italian Amyotrophic Lateral Sclerosis Association – given the complexity of the pathology, need a multidisciplinary approach with specialists – neurologist, physiatrist, pulmonologist, cardiologist – that they talk and coordinate. The other thing they need is not to be left alone. They have the feeling of inadequate care. These are pathologies – he reflects – that affect the entire family nucleus. Having centers that take care of these diseases from multiple points of view is extremely important”.
The therapeutic responses currently available “are developing in an increasingly important way and having the opportunity to present the research activity gives hope – reiterates Zuccarino – There are innovative treatments that are already starting to be administered and new therapeutic perspectives that are opening. On spinal muscular atrophy (Sma), in addition to gene therapy, there are treatments that improve compliance, i.e. the ease of access and maintenance for therapies, and adherence to therapy”, essential for the effectiveness of the treatment. “On ALS – adds the physiatrist – there is a drug that is intended for a small number of patients with a specific mutation. We can offer them a therapy that we are evaluating to understand if it changes the natural history or stabilizes the disease. In Trentino – specifies the expert – translational research, the one that brings basic research directly to the patient, is becoming a reality”.
Receiving a diagnosis of neuromuscular disease “is not necessarily interrupting one’s life but changing one’s approach to it. With rehabilitation it is possible to find alternatives to allow patients to live their lives to the fullest. Sometimes – concludes Zuccarino – a person remains stuck at the diagnosis, at what he can no longer do, instead he can carry out those activities, participate in social life. For this, it is necessary that it be supported in finding new solutions, adopting the use of the aids in charge and making the most of the opportunities that technology offers us today”.
On the national territory, the Day enjoys the patronage of the Italian Society of General Medicine and Primary Care (Simmg), the Italian Society of Neurology (Sin), the National Federation of Orders of Surgeons and Dentists (Fnomceo) and the Italian Association of Physiotherapy (Aifi).
Gnm has been promoted since 2017 by Asnp (Italian Association for the study of the peripheral nervous system) and Aim (Italian Myology Association) and by Sin, to which both Associations are members. The 2022 edition involved over 2,000 people at the working tables.
