RESPIRATORY PHENOTYPES of NEUROMUSCULAR DISEASES: A challenging ISSUE for pediatricians
Ne uromuscular diseases (NMDs) encompass a heterogeneous group of genetic disorders, with respiratory problems of variable intensity and progression described at any pediatric age, from infancy to adolescence, and they are largely associated with significant lifelong morbidity and high mortality. Restriction of breathing, impaired gas exchange, decline of lung function and sleep disordered breathing progressively develop because of muscular weakness and culminate in respiratory failure. Depending on the disease progression, airways manifestations can take weeks to months or even years to evolve, thus depicting two major respiratory phenotypes, characterized by rapid or slow progression to respiratory failure.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Melissa Borrelli, Gaetano Terrone, Roberto Evangelisti, Flora Fedele, Adele Corcione, Francesca Santamaria Tags: Review Article Source Type: research
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