Keywords
Causality
Signs and Symptoms
Neuromuscular Diseases
Pathophysiology
How to Cite
Abstract
This study aimed to identify and highlight the main causes and symptoms of spinal muscular atrophy (SMA). This is an integrative literature review. The following databases were used as sources for the search: Scientific Electronic Library Online, Google Scholar, Ministry of Health, PubMed, and the Brazilian Journal of Health. Fifty-three articles were found. After applying the inclusion and exclusion criteria, and reading and analyzing the studies, the number of articles selected for this review was 10. The studies showed that SMA results in progressive symmetrical muscle weakness, and atrophy of the proximal voluntary muscles of the legs, arms and occasionally trunk muscles during the progression of the disease. It can be classified into four subtypes, ranging from type 0 (before birth) to type 4 (second or third decade of life), with a correlation between the degree of muscle involvement and the age at which the first symptoms appear. It is concluded that in addition to the serious muscular impairment that can be diagnosed in utero by genetic tests, the progressive and serious loss affects development and makes the vast majority of children dependent on pulmonary ventilation and physiotherapy, and the existing pharmacological and physiotherapeutic treatments are not capable of recovering the muscle cells that have already been lost, they only slow the progression of the disease and offer quality and life expectancy.
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