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.
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