Other municipalities: The danger of delayed diagnosis of neuromuscular diseases: “Reliance on specialized centers”

Cheeti. “We know them as serious and disabling diseases, not by their scientific name.”Neuromuscular diseases“But with those that are commonly used: amyotrophic lateral sclerosis, dystrophy, myopathy, myasthenia, neuropathy and the like.

They suffer from it About 50 thousand people in Abruzzofor which Regional Center for Neuromuscular Diseases at Chieti Hospitalwhich is recording a continuous growth in prevalence thanks to the greater diagnostic capacity that has been developed in this field.

The size of this large group of diseasesalways rare and hereditary in nature, appear on the occasion of Day of Neuromuscular Diseases Which falls on April 13, which is the date specified by specialists Local health authorities and universities They will discuss diagnostic and therapeutic approaches and the use of new technologies.

“From the first symptoms, it is important to contact specialized structures – this is attractive Antonio Di Muzio, Center Coordinator at SS. Annunziata – Because these diseases are often diagnosed late because they are unknown. Therefore, their rapid verification allows access to highly effective, and in some cases life-saving, treatments introduced in recent years, which can be administered intravenously or intraspinalally only in highly specialized hospitals able to care for patients.

“Our center is executing At a rate of 1000 visits annually – Di Muzio further explains – He welcomes patients from the entire region and from neighboring areas, suffering from various diseases. We have more than 900 with neuropathy, 1,257 with myopathy, and 837 with motor neuron disease, such as amyotrophic lateral sclerosis (ALS) and myasthenia gravis. We offer them integrated multidisciplinary treatment thanks to cooperation with other operating units of the hospital, such as gastroenterology, pulmonology and cardiology.

In addition to specialist visits, electromyography and molecular diagnostics are performed using samples that are then sent to the university genetics laboratories, and infusion therapies are administered in the day hospital, including innovative treatments intended for patients with chronic inflammatory polyneuropathy, myasthenia gravis, and myositis. Muscles, giving immune globulin. For stiff man syndrome. Based on the case studies developed to date and the research work completed, we can truly provide a hopeful response to these patients, for whom our commitment remains steadfast in terms of innovation in the areas of diagnosis, treatment and case management.

For the first evaluation It is necessary to book via Cobb with a request for a neurological visit at the Center for Neuromuscular Diseases. For subsequent visits, especially in emergency cases, you can call the clinic in the morning from 12.00 to 14.00 on the number 0871358585. Upon assuming responsibility, the patient will be informed of the procedures that must be followed to conduct the examinations.

Abruzzo Regional Reference Center for Neuromuscular Diseases (CRMN) is unique in the region and is active in the Neurology Clinic of the SS Annunziata Hospital in Chieti, under the direction of Stefano Sensi, Emeritus Professor at D'Annunzio University.

It is officially established by regional law as a reference point for the integrated multidisciplinary diagnosis and treatment of neuromuscular diseases. It is also included in the National Network of Neuromuscular Diseases, and is also involved in the activity of newborn screening for spinal muscular atrophy (SMA), the first to be activated in Abruzzo.