Diagnostic strategies for muscular dystrophies: a cross-sectional study

Abstract

Background Muscular dystrophies are a wide heterogeneity group of neuromuscular diseases that very often constitutes a challenge for clinicians to perform an adequate diagnosis. Many patients remain underdiagnosed or misdiagnosed consequently affecting their prognosis and quality of life. Therefore, we aimed to establish clinical and molecular characteristics of patients with increased CPK levels and muscular dystrophies in our region to facilitate diagnosis and follow-up on patients with suspected muscular dystrophies. Methods A cross-sectional study was made using a retrospective search of patients attended in Comfamiliar Risaralda between 2010 and 2021. The study included patients from both genders and all ages who presented with a diagnosis of polymyositis, myoclonus, myopathy, and muscular dystrophy between 2010 and 2022 in Comfamiliar Risaralda. Patients with CPK levels lower than 500 U/L were excluded. Results A database analysis was carried out from 2010 to 2022 of 5219 patients treated in a fourth-level care institution in the Eje Cafetero region, finding 221 patients filtered by a diagnosis of myopathy, myoclonus, polymyositis, and dystrophy. We found a combined prevalence of all muscular dystrophies of 4.2 per 100.000 among patients treated in our hospital base, Duchenne muscular dystrophy of 0.6 per 100.000, limb-girdle muscular dystrophy of 0.6 per 100.000, facioscapulohumeral dystrophy of 0.5 per 100.000, Bethem dystrophy, type 2 Emery Dreifuss muscular dystrophy, merosin-deficient muscular dystrophy and myosin storage disease of 0.1 per 100.000. A diagnostic sequence was elaborated from clinical and paraclinical features found in our patients. A diagnostic sequence was elaborated from clinical and paraclinical features found in our patients. Conclusions Although muscular dystrophies consist of a heterogeneous group of neuromuscular diseases, there are still clinical and paraclinical features that can help physicians to detect any particular case and perform a good approach and follow-up. Our diagnostic sequence will facilitate physicians to determine any particular muscular dystrophy.