Actualización diagnóstica y tratamiento de la atrofia muscular tipo 1

Gabriela Alexandra Solano Peña; Richard Gabriel Armendáriz Molina; Gabriela Alejandra Díaz Teran; Gabriela Fernanda Acurio Armas; Rosa Ximena Valencia Bautista; Maria Caridad Rodas Rivera; Tatiana Alexandra Aldas Palacios

doi:10.56294/saludcyt2024726

Review

Published: 2024-01-07

DOI: https://doi.org/10.56294/saludcyt2024726

Diagnostic Update and Treatment of Type 1 Muscle Atrophy

Abstract

Introduction: Spinal muscular atrophy type 1 is the most severe form of spinal muscular atrophy. It affects newborns and manifests within the first months of life. It is a progressive disease that significantly impacts the quality of life and has a high childhood mortality rate.
Objective: This article aims to provide an update on the diagnosis and treatment of spinal muscular atrophy type 1.
Methods: A literature review was conducted on articles published in the last five years, utilizing databases such as PubMed, the Cochrane Library, and Web of Science. Clinical studies, systematic reviews, and meta-analyses related to the topic were selected.
Results: Recent advances in genetics have enabled a more precise diagnosis through the Survival Motor Neuron 1 genetic test, in addition to electrodiagnostic studies and, in some cases, muscle biopsy. These tests allow for accurate disease confirmation, which is essential for effective treatment. Regarding treatment, it includes the use of Nusinersen, Onasemnogene Abeparvovec, and Risdiplam. These medications have shown promising results in improving motor function and patient survival. Each of these treatments addresses the disease from different mechanisms, offering various options for managing spinal muscular atrophy type 1.
Conclusions: Although there is still no cure, advances in the diagnosis and treatment of spinal muscular atrophy type 1 provide hope. Early detection and emerging therapies are crucial in improving outcomes for patients.

Keywords:

Spinal Muscular Atrophy Type 1,

Genetic Diagnosis,

Gene Therapy,

Survival,

Quality of Life,

How to Cite

Solano Peña GA, Armendáriz Molina RG, Díaz Teran GA, Acurio Armas GF, Valencia Bautista RX, Rodas Rivera MC, Aldas Palacios TA. Diagnostic Update and Treatment of Type 1 Muscle Atrophy. Salud, Ciencia y Tecnología [Internet]. 2024 Jan. 7 [cited 2024 Jul. 27];4:726. Available from: https://revista.saludcyt.ar/ojs/index.php/sct/article/view/726

Copyright Notice

The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

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