Diagnosed in Physical Education class: study of a patient with weakness

Beatriz Tesoro Martínez^a, Sonia de Pedro Baena^b, Guillermo López López^c, Pilar Díaz Pernas^d

^aPediatra. CS Las Tablas. Madrid. España.
^bNeuropediatra. Hospital Universitario Infanta Sofía. San Sebastián de los Reyes. Madrid. España.
^cProfesor de Educación Física. IES San Cristóbal de Los Ángeles. Madrid. España.
^dPediatra. CS Carabanchel Alto. Madrid. España.

Correspondence: B Tesoro. E-mail: beatriz.tesoro@salud.madrid.org

Reference of this article: Tesoro Martínez B, de Pedro Baena S, López López G, Díaz Pernas P. Diagnosed in Physical Education class: study of a patient with weakness . Rev Pediatr Aten Primaria. 2025;27:169-72. https://doi.org/10.60147/f40a6358

Published in Internet: 12-06-2025 - Visits: 485

Abstract

Charcot-Marie-Tooth disease is a motor and sensory neuropathy with a significant prevalence, with onset typically occurring in the first two decades of life. We present the case of a patient with the classic signs of this condition that led to suspicion of the disease. The diagnosis was confirmed through neurophysiological tests and a genetic study. There is no curative treatment for this disease, but early therapies aimed at preventing progression and complications can improve the course of disease.

Keywords

● Charcot-Marie-Tooth ● Equinus deformity ● Muscle weakness ● Neuropathy