Nemaline myophaty: description of respiratory and motor function and the quality of life of patients with different clinical forms of NM

*Correspondence: [e-mail].

Abstract

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

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

Methods: 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.

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.

 

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Publication History

Article published online:
12 May 2025