Challenges involved in performing an epidemiological survey of genetically determined myopathies
Epidemiological data myopathies
DOI:
https://doi.org/10.51208/saudeinovacao.v2i1.26Palavras-chave:
Muscle disorders, Epidemiological profiles, Genetic diseases, Hospital file, Descriptive study, Rare diseaseResumo
Epidemiological surveys are costly and time consuming, requiring persistence on the part of the researchers. The decision to conduct such a survey should consider the basic characteristics of a good research question and involve a cost-benefit analysis. Objective: The aim of the present study was to describe the difficulties involved in conducting an epidemiological survey of myopathies in the Federal District. Methods: The entire process (three years) was described, including the first contact among colleagues in January 2011 until the identification of cases. Results: The following were the main obstacles encountered: limitations in the recruitment method based on signs and symptoms; the low degree of reliability regarding the data collected from hospital records; disbelief of the researchers and resistance encountered at the hospitals of the Federal District to the implantation of the project. Over the course of 3 years, 62 cases were identified. The main diagnoses were Duchenne and limb-girdle dystrophies. Conclusion: Whereas the genetic myopathies are rare conditions difficult to diagnose, given the scenario of few technological resources, slowly progressive disorder and mostly untreatable, the low number of identified patients in this study is justified. The findings reveal the enormous difficulty clinics have in performing an epidemiological study on neuromuscular diseases in the capital of Brazil.
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