Yolanda Mañes Jiméneza, Gema M.ª Pedrón Marzala, Belén Taberner Pazosb
aServicio de Pediatría. Hospital Lluís Alcanyís. Játiva. Valencia. España.
bMIR-Pediatría. Servicio de Pediatría. Hospital Lluís Alcanyís. Játiva. Valencia. España.
Correspondence: B Taberner. E-mail: belentaberner@gmail.com
Reference of this article: Mañes Jiménez Y, Pedrón Marzal GM, Taberner Pazos B. Hypotonia in an infant due to spinal muscular atrophy. Rev Pediatr Aten Primaria. 2021;23:e93-e97.
Published in Internet: 18-06-2021 - Visits: 12749
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.
Keywords
● Hypotonia ● Spinal muscular atrophy
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