Update on: Neuromuscular disorder, a diagnostic challenge

Abstract

Neuromuscular disorders (NMS) are a common cause of pediatric morbidity. Many of these disorders, in the long term, create a progressive disability in the child, so that timely diagnosis is essential. As is common with other medical conditions, the starting point of the diagnostic process is a complete and detailed medical history and physical examination. This approach, mainly clinical, makes it possible to establish an initial syndromic diagnosis and then to orient ourselves to specific charts and direct the request for complementary studies. The neuromuscular laboratory includes a series of tests that complement the identification of these charts and allow us to approach a differential diagnosis between common phenotypes. The objectives of the diagnostic investigation are to offer genetic counseling, to define a future prognosis and to establish an updated treatment plan, aimed at maintaining the functionality, preventing complications and improving the quality of life of each patient.
This article aims to provide tools for a pediatric diagnostic approach of the child who presents to the medical consultation, with symptoms suggestive of a neuromuscular disorder