Background: Proper diagnosis is the first and most critical step for effective identification and treatment of myopathy and dystrophy disorders. Although various histochemical and biochemical studies have paved the way for efficient testing of these disorders, they are insufficient for accurate diagnosis. To overcome this, the diagnostic procedure has now shifted more toward the "genetic first approach," with the remarkable role played by various genetic and molecular techniques.
Objective: In developing countries, successful diagnosis of such disorders is affected by the shortage of hospitals, poor lab setup, limited diagnostic methods, and unavailability of technical expertise. As a major population living in developing countries faces such inadequate healthcare facilities, there has always been a need for identifying effective diagnostic techniques that could identify genetic alterations more prone in such regions.
Materials and methods: This article reviews studies done in the last few years that primarily use nonsequencing-based molecular diagnosis methods to identify myopathy- and dystrophy-specific gene alterations and thus could equally hold potential for screening key genetic alterations reported in certain regions in developing countries. Further, this review deals with new emerging sequencing and next-generation sequencing (NGS)-based approach and their potential in providing an adequate diagnosis.
Conclusions: This study promotes nonsequencing-based molecular methods to be an effective method for early-stage diagnosis and management of myopathies and dystrophies in developing countries and suggests the high importance of emerging NGS methods in proper diagnosis and identifying new players in neuromuscular disorders.
Keywords: Diagnosis; GNE; dystrophy; genetics; myopathy.