Atrofia muscular espinhal: possíveis impactos do rastreio precoce no teste do pezinho ampliado

Abstract

Objective:To present important aspects of Spinal Muscular Atrophy (SMA) and analyze the possible impacts of early screening using the Extended Pezinho Test on the prognosis of affected children. Bibliographicreview:AME is a neuromuscular disease characterized by the degeneration of alpha neurons in the spinal cord resulting from a deletion in 5q11.2-q13.3 that affects the survival motor neuron 1 (SMN1). It courses with progressive muscle atrophy, weakness, paralysisand death. The traditional classification divides AME into 5 types, but its practical importance has been progressively reduced. The diagnostic suspicion is based on the characteristic manifestations of the disease and confirmation is made through molecular genetic tests. The management of patients with SMA involves non-pharmacological measures, in addition to drug therapy. Neonatal screening aims to screen for diseases in newborns in the pre-symptomatic period. Six diseases are included in the screening, but others will be incorporated, including AME. Final considerations:As the success of therapy is associated with the precocity of your institution, early screening will enable a better perspective of care in EBF, maximizing functional results and promoting quality of life.