*Correspondence: reisanaluiza1@gmail.com.
Abstract
Background: Spinal Muscular Amyotrophy (SMA) is a neuromuscular, genetic and hereditary disease,
of autosomal and recessive character, characterized by degeneration and loss of motor
neurons in the spinal cord and in the brainstem, causing progressive muscle weakness
and hypotonia. There are four types of SMA, which are differentiated by the age of
onset of symptons and the degree of motor development. In Brazil, there is no curative
treatment available, requiring a specific drug that delays its development. Spinraza
(nusinersena) is one of the principal drugs indicated in cases of SMA, it is an antisense
oligonucleotide drug (ASO), which can synthesize a biologically active and functional
“survival of motor neuron” (SMN) protein.
Objective: To compare the motor functions in children with SMA Type I before and after the application
of Spinraza®.
Methods: Six children diagnosed with SMA Type 1 were analyzed. The data were analysed using
IBM SPSS Statistics 22 (2013). The Shapiro-Wilk normality test was performed. The
significance level (α) applied in the test was 5%. The collected data were organized
in Microsoft Excel 2010® Software.
Results: The mean age was 37.8 months, the study group was composed by 66.7% male and 33.3%
female, who underwent treatment with Spinraza, with an average initial age of 21.3
months of life. The results obtained during the experiment showed that the application
of the 4th dose presented an increase in the score, compared to the control group.
The administration of the 6th dose also pointed improvement in the evaluation (Average
28.00 ± 16.57). Most patients showed a mean improvement of 6.17 points after the sixth
dose, and there was a mean improvement of 13 and 6.83 points. The administration of
the 4th dose showed no significant difference between children of both genders (p>0.05)
and the administration of the 6th dose did not show any significant difference either.
Conclusion: Thus, there was a significant improvement in motor skills as the treatment proceeded,
without positive interference from sex, age or date of initiation of treatment
