Miopatia Nemalínica : caracterização da função pulmonar, motora e escores de qualidade de vida

Abstract

Objective: to evaluate the existing literature on clinical and functional parameters and instruments for assessing respiratory, motor function and patient quality of life (QOL) with Nemaline Myopathy (NM). Methods: non-systematic bibliographic review, referring to the period 1963-2020, by using the Medical Publications Databases/ Medical Literature Analysis and Retrieval System On-line (PUBMED/ MEDLINE), Embase, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Cochrane Library, Web of science and LILACS databases, based on the following keywords: nemaline myopathy, neuromuscular diseases, respiratory function tests, motor function, respiratory muscles and quality of life. Results: 39 articles were found in the VHL, 1873 in MEDLINE via PUBMED and 288 in EMBASE 150 articles were selected on these search platforms. Several secondary references were used, as well as textbooks relevant to the subject. The objective of neuromuscular disease evaluation should be the functionality and their quality of life. The respiratory impairment is the leading cause of death in these patients. The respiratory assessment should begin with noninvasive and voluntary test, the most usual and common in clinical practice. For the motor assessment, besides strength evaluation, functional scales should be the choice method to assessment neuromuscular disorders patients. Conclusion: Health services have different access to instruments for assessing motor and respiratory function in patients with neuromuscular diseases (DNM). In NM, the importance of assessing respiratory function in a more systematic way stands out, especially due to diaphragmatic impairment, which is a relevant feature in this myopathy. In addition, the great variability in motor function of these patients does not help as a marker with worsening of ventilatory function. Thus, due to this difference in the availability of instruments in different health services, the description of these functions and the QOL of patients can assist in better monitoring and guide the best approach for patients with NM.