Spinal muscular atrophy, early diagnosis for increasingly effective therapies

Atrofia muscolare spinale, diagnosi precoce per terapie sempre più efficaci

It is a genetic disease that affects children in the first years of life with different forms. A preventive diagnosis helps to counteract the development of the disease

It affects about one in 10,000 newborns and is a neuromuscular disease. This is the identikit of spinal muscular atrophy or SMA, a disease that is transmitted by recessive genetic path: it can occur when two healthy carriers meet (one in 40 people in Italy has the altered gene in their genetic heritage) in 25% of cases. Today, thanks to therapies, it is possible to change the history of the patient and his / her life prospects, even if there is still no definitive cure for the disease. but you have to arrive early, very early to recognize it. It is indeed essential to start treatment in the very first days of life to obtain the best results, as explained by Marika Pane, associate of Child Neuropsychiatry at the Catholic University of Rome and Clinical Director of the NeMo Center in Rome, pediatric area, at the Agostino Gemelli Polyclinic Foundation. IRCCS.

One disease, different forms, tailor-made treatments

"SMA is linked to the progressive death of motor neurons, the nerve cells of the spinal cord that transmit the command to move to the muscles" – explains Pane. “There are different forms. Type I is more severe and affects about half of patients: children show signs of the disease already at birth or in the first months, with respiratory failure that may require invasive treatments to allow breathing. Unfortunately, in these cases, newborns are unable to sit up and, before modern therapies, death occurred within two years of life ”. Children affected by form II, also called intermediate form, acquire the ability to sit, but not to walk independently. Form III and IV are the least severe; they often begin after the first years of life and are always associated with the ability to walk, although this ability is sometimes lost in adolescence. “Thanks to research, today we have therapies available that are not able to cure the disease but allow to radically change the history of the affected children and their perspective on life – underlines Pane. Since 2007 we have available intrathecal injections of drugs that have very positive effects in very young children, then came a drug available by mouth for compassionate use and recently the Italian Medicines Agency authorized gene therapy treatment for children under six months. These developments make it very clear the need to arrive as soon as possible with the diagnosis: children should be treated within the first fifteen days of life and in any case before the onset of symptoms, given that all children treated with the drugs available in this phase of five years from the treatments show no signs of disease ".

Screening is key

In short, arriving very early is essential. For this reason, it is necessary to focus on screening, which must be carried out at birth through the search for the genetic mutation linked to the disease. "At the moment only two regions are" pilot "in this sense, with newborn screening, Lazio and Tuscany," concludes Pane. A working group is carrying out all the necessary assessments to expand this screening throughout the country. Screening appears fundamental because it allows children with the genetic defect to be treated with therapies within the first 15 days of life, in an ideal time window to obtain the best results from treatments, which allow to radically change the quality of life of the children. Our goal, therefore, is now to extend screening throughout Italy ”. On the genetic front, the disease is caused by a defect in one of the two genes – SMN1 and SMN2 – which leads to the production of insufficient levels of a protein called SMN. The mode of transmission is autosomal recessive which means that the parents are healthy carriers of the genetic defect and, in the case of pregnancies generated by the meeting of the genetic heritages of two healthy carriers, they have a 25% chance of transmitting the disease to each of the sons.

For more information on SMA, visit the Nemo Clinical Center website

Category: Health
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