Journal of Rare Disorders: Diagnosis & Therapy

Centre of Expertise: Comprehensive Care for Patients with McArdle Disease

McArdle disease is a rare disease (RD) of muscle metabolism, which is caused by a deficiency of the enzyme myophosphorylase. The cardinal feature of this metabolic myopathy is exercise, or more specifically, activity intolerance. The limited prevalence of this disease translates into a global challenge of limited specialist care for this patient cohort. Without access to informed clinical management, many affected individuals continue to be undiagnosed, misdiagnosed and/or experience delays in diagnosis. And for those that do receive a corrected diagnosis, insufficient access to specialized services often results in inappropriate treatments and adverse consequences for these patients. A Centre of Expertise (CoE) represents the most expansive platform to provide patients with McArdle disease current best practices that encompass thorough assessments, accurate diagnostic methods, relevant information and guidance, multidisciplinary support and an ongoing interface between primary and specialist care. By providing patients with a timely diagnosis and the necessary tools to avoid emergent care and frequent hospitalizations, an overall improvement in health and subsequent reduction in healthcare costs may be seen. To effectuate change, national and regional policies are needed to alter the present course toward a path that is illuminated with enhanced access; with the ultimate goal of improving quality of life (QoL) for all individuals with McArdle disease.

Author(s):

Stacey L Reason, Renee Cadzow, Briana J Jegier and Andrew Wakelin

Abstract | Full-Text | PDF

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