Hypotonia in an infant due to spinal muscular atrophy

Authors:

Mañes Jiménez Y^a, Pedrón Marzal GM^b, Taberner Pazos B^c

^aServicio de Pediatría. Hospital Lluís Alcanyís. Játiva, Valencia. España.
^bServicio de Pediatría. Hospital Lluís Alcanyís. Játiva, Valencia. España.
^cMIR-Pediatría. Servicio de Pediatría. Hospital Lluís Alcanyís. Játiva, Valencia. España.

Reference of this article.:

Mañes Jiménez Y, Pedrón Marzal GM, Taberner Pazos B. Hipotonía en un lactante por atrofia muscular espinal. Rev Pediatr Aten Primaria. 2021;23:e93-e97.

Published in Internet: 18/06/2021

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.