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Vol. 23 - Num. 90

Clinical Reviews

Hypotonia in an infant due to spinal muscular atrophy

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: 697

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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