Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD): A Review on Assessing Measures

Abstract

Mutations in the encoding Dystrophin gene lead to lethal, genetic muscular dystrophies such as Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD) which have a slower progression than DMD and an intermediate form. Dystrophin gene mutations abolish the production of Dystrophin in body muscles such as skeletal, cardiac, and smooth muscles. The progressive degeneration of muscle tissues and functions will occur. Most often respiratory, orthopaedic, and cardiac-related complications have led to death. These neuromuscular disorders occur at a frequency of about 1 in 5000 newborn males. The objective of this review was to identify and understand the available measures used for assessing muscular dystrophies in DMD and BMD. Review of studies identified from searching medical bibliographic sources relevant to assessing methods and techniques of DMD and BMD between the years of 2002 and 2022. The studies showed measures used to assess the muscles in DMD patients apart from clinical assessments to quantify the pathological changes involved in the muscles as objective parameters. The measures can be categorized into invasive and non- invasive methods. This study has resulted in manual muscle testing methods and methods of assessing the functional ability of the muscles such as muscle biopsies, Ultrasound scans (USS), and Magnetic Resonance Images (MRI) etc. It concludes that the most widely used effective and reliable investigation method has been identified as MRI scans due to various purposes and methods of assessing muscular dystrophies.