Università degli studi di Modena e Reggio Emilia

Università degli Studi di Modena e Reggio Emilia
Corso di laurea in infermieristica - Sede di Modena

Abstract

Background: The mutation of the Survival Motor Neuron (SMN) genes leads to insufficient protein levels, that are essential for the survival of motor neurons; this causes the recessive genetic disease known as: spinal muscular atrophy, also called SMA. Although the first cases were already ascertained from the mid-nineteenth century, it's only in the last decades of epidemiological studies that experts have been able to identify the genes that cause the disease with more certainty. SMA is the most common genetic cause of infant death, despite relentless medical advances. From here, my interest grow in wanting to extend the knowledge of this topic in the nursing healthcare world, which is often and perhaps still little dealt with, given its rarity. An interest increased by the recent discoveries of disease-modifying drugs, which have truly revolutionized the outcome of prognosis. Results: The paper explores SMA at 360 degrees, both from the point of view of the statistical and scientific analysis of the disease in all its forms and, therefore, on every type of patient, and with a particular focus on the pediatric patient, when discussing the therapeutic education and care of the child and his family. The nurse, acquiring the aforementioned knowledge, equipping himself with effective communication strategies to foster and establish rapport and trust, will thus be able to co-lead the patient and the family towards shared goals, through the therapeutic path described in this dissertation. Conclusions: The hope remains to reify the vision and mission common to the operational / professional mandate of any Nurse, but by declining the methodological and pragmatic aspects, aligning with the specific "gravitational waves" of the SMA universe.