Dados do Trabalho

Título

NEMALINE MYOPHATY: DESCRIPTION OF RESPIRATORY AND MOTOR FUNCTION AND THE QUALITY OF LIFE OF PATIENTS WITH DIFFERENT CLINICAL FORMS OF NM

Introdução

Nemaline myopathy (NM) is a common structural congenital myopathy, with a significant clinical and genetic heterogeneity.

Objetivo

Perform the assessment of respiratory, motor function and the quality of life of patients with different clinical forms of NM.

Método

A cross-sectional study in line with a prospective cohort was carried out in Neuromuscular disease reference ambulatory of Hospital das Clínicas in Universidade Federal de Minas Gerais including patients with nemaline myopathy whose diagnosis was made by muscle biopsy and / or histochemical study or genetic study. The sample underwent clinical evaluation, tests to assess respiratory, motor function and QQV.

Resultados e Conclusões

Results: 11 patients with NM were included, divided into 2 groups according to the clinical classification of NM: intermediate form (n = 4) and typical form (n = 7). The intermediate group had worse motor function, respiratory function (seated CV and PFT) and QOL relative to the functional capacity compared to the typical group. The indirect assessment of diaphragmatic strength, through SNIP, showed diaphragmatic weakness in both groups.
Conclusion: Patients with NM, in their different clinical forms, may present different levels of respiratory, motor impairment and QOL, justifying the phenotypic variability, which is a characteristic sign of the disease. The importance of diaphragmatic assessment must be stressed, especially in patients with a typical clinical form who may have severe respiratory failure with mild motor impairment and preserved walking ability. The physiotherapeutic evaluation of these patients is of fundamental importance so that the therapeutic plans for rehabilitation are drawn up with greater precision and specificity.

Palavras Chave

Nemaline myophaty. Motor skills. Respiratory function tests. Respiratory tests. Quality of life.

Declaração de conflito de interesses de TODOS os autores

Declaro que nenhum dos autores apresentam conflito de interesses.

Fonte de Fomento (se houver)

Referências (se houver)

1. Claeys KG.Congenital myopathies: an update. Dev Med Child Neurol. Mar. 2020: 62(3):297-302.
2. Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F. et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. Mar. 2012; 27(3):363-382.
3. Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Nemaline myopathies. Semin Pediatr Neurol. 2011; 18(4):230–238. Doi:10.1016/j.spen.2011.10.004. Review 10.1016/j.spen.2011.10.004.
4. Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST. et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. Sep. 2001; 50(3):312-320.

Área

Doenças neuromusculares