18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho




Spinal Muscular Atrophy (SMA) is the second most common neuromuscular disease in childhood, with an estimated incidence of 1 in 11,000 live births. It leads to progressive muscle weakness and consequently affects functional motor skills. In the last years, therapies that modify the natural history of SMA have been developed, making the use of instruments capable of objectively detecting the response to treatment and clinical evolution of patients essential.


To translate and cross-culturally adapt to Portuguese-Brazil and determine the reliability and validity of the HFMSE (Portuguese-Brazil). Investigate the relationship of motor function with other measures, such as vital capacity (VC), peak cough flow (PCF), muscle strength and joint amplitudes.


The translation process and cross-cultural adaptation followed international guidelines recommendations. Two examiners assessed the participants for interrater reliability, through the analysis of Kappa reliability agreement (k) and Intraclass Correlation Coefficient (ICC). Validation consisted of applying the HFMSE scale and analyzing its correlation with other relevant variables, such as muscle strength, respiratory function and joint amplitudes.

Resultados e Conclusões

Results: The HFMSE was successfully translated and cross- culturally adapted to Portuguese-Brazil. Twenty-eight children/adults SMA type 2 and 3 were enrolled in the study (Type 2 = 14; Type 3 = 14). Fifteen (54%) were women and mean age of 20,6 ± 11, 8 years old. The ICC for the total score showed very high reliability (ICC =1.00). A statistically significant correlation was observed between the HFMSE and the VC measurement (p < 0.001), however there was no significance (p > 0.05) for the PCF measurement. Regarding the presence of contractures, it was observed that hip and knee flexor contractures are found in 92.9% of SMA type 2 participants and are directly correlated with the score obtained in the HFMSE (p < 0.05). The muscle strength values obtained using the manual dynamometer were significantly higher in SMA type 3 participants compared to type 2 SMA participants. Through the results, it was possible to observe that the knee extensors (2.4 ± 3.1 lbs) were the most compromised muscle group in both phenotypes.
Conclusion: The HFMSE (Portuguese-Brazil) proved to be valid and reliable for the evaluation of patients with SMA type 2 and 3 in Brazil.

Palavras Chave

Spinal Muscular Atrophy. Motor function. Hammersmith functional motor scale expanded.

Declaração de conflito de interesses de TODOS os autores

Declaro que nenhum dos autores apresenta conflito de interesses.

Fonte de Fomento (se houver)

Referências (se houver)

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Doenças neuromusculares


Departamento de Neuropediatria da Universidade Federal de Minas Gerais - Minas Gerais - Brasil