An analysis of Spinal Muscular Atrophy
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Abstract
Objective: To analyze the characteristics of spinal muscular atrophy (SMA). Biliographic review: SMA is one of the most common monogenic neurodegenerative diseases, with an incidence of around 1:10,000 in newborns. The hallmark of the disease is the degeneration of cells in the anterior horn of the spinal cord, leading to the characteristic symptom of progressive proximal weakness involving varying degrees of muscular atrophy. Furthermore, children with SMA develop weakness of the diaphragm and accessory muscles of breathing, leading to respiratory failure and risk of aspiration. Clinical subtypes of SMA are defined by maximal motor function. Final considerations: SMA is a neurodegenerative genetic disease whose progression depends on the clinical subtype, which varies from 0 to 4. Its diagnosis is based on molecular genetic tests, such as the SMN1/SMN2 genetic test. The pathology is treated with medications such as Nusinersen and Sovaprevir, which are injectable, and Risdiplam, which is a newer oral medication. Furthermore, physical training and physiotherapy a re essential pillars in maintaining movement in these patients.
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