Non-invasive assessment of skeletal muscle pathology and treatment for Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is a severe neuromuscular dis¬order caused by mutation(s) in the gene encoding dystrophin. While recent advances in palliative care have increased life expectancy to 20–30 years of age, this disease remains invariably fatal. Muscle pathology and therapeutic efficacy is primarily assessed using invasive muscle biopsies or muscle strength measurements, both of which have considerable disadvantages. The use of non-invasive imaging to monitor DMD progression and efficacy of therapeutic intervention strategies may further be used for the develop¬ment of treatments for this devastat¬ing childhood disorder. This review will highlight the use of three medical imaging technolo¬gies routinely used in clinics today that may be valuable in monitoring disease muscle pathology and thera¬peutic efficacy in animal models of muscular dystrophy and in DMD patients. Specifically, this review will focus on the use of various imaging modalities to assess disease progres¬sion in skeletal muscle tissue where myofiber degeneration is the hall¬mark pathology of DMD. Research involving magnetic resonance imag¬ing (MRI), positron emission tomog¬raphy (PET) and computed tomogra¬phy (CT) will be reviewed and their potential use in future studies will be discussed. While the research discussed in this review highlights the promise for the use of non-invasive imaging to monitor muscle degeneration/regeneration in DMD patients, a few key limitations must first be addressed before these techniques are implemented as a mainstay in DMD patient care. These limitations include long scan and study times that are not ideal for paediatric patients, potential health and safety concerns due to current radiation doses, inconsistent imaging protocols between imaging centres and limited access to imaging centres for some patients.