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Pediatría Atención Primaria
versão impressa ISSN 1139-7632
Resumo
MANES JIMENEZ, Yolanda; PEDRON MARZAL, Gema Mª e TABERNER PAZOS, Belén. Hypotonia in an infant due to spinal muscular atrophy. Rev Pediatr Aten Primaria [online]. 2021, vol.23, n.90, pp.e93-e97. Epub 09-Maio-2022. ISSN 1139-7632.
Abstract
Infant hypotonia is a nonspecific sign on physical examination that may appear in multiple diseases. Early detection from primary care through health reviews is necessary. An adequate clinical history with an age-adapted neurological examination to distinguish between central and peripheral hypotonia, will be key in the initial diagnostic approach. We present the case of a one-month-old infant with hypotonia. The diagnosis of spinal muscular atrophy is confirmed, a rare entity whose prognosis has improved due to the discovery of new therapeutic strategies.
Palavras-chave : Hypotonia; Spinal muscular atrophy.