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Physical activity and McArdle disease

Ongoing

Project description

Summary

This project works with EUROMAC – an international concordat of professionals and patients from 13 countries from Europe, USA and Canada on McArdle and other Glycogen Storage Diseases for dissemination and sharing of information, professional practice and a registry of patients who may be willing to be involved in future research.

It also works with a Multidisciplinary Team (MDT) for the McArdle Clinic which is run by the MRC Centre for Neuromuscular Diseases, Queen Square, London. MDT comprises the Medical Consultant, Honorary Consultant Exercise Physiologist (Me), Clinical Neuropsychologist, Dietician, Physiotherapist, Specialist Nurse, Senior Clinical Scientist and a Clinical Research Fellow. The clinic work together to publish the results, change the outcomes of patients by giving practical advice to change their life choices and produce research from the findings.

Description

The glycogen storage diseases (GSDs) are a group of around 20 disorders mainly affecting glycogenolysis and glycolysis and Richard has contributed to peer-reviewed research in a number of GSDs. Most of these diseases are inherited genetic mutations that result in the deletion of a single enzyme in the production of energy from one of these pathways (glycogenolysis or glycolysis). This affects a patient’s everyday life to a greater or lesser extent as all result in a pathologically restricted exercise capacity. In extreme cases this can make the simplest muscular effort, such as brushing your teeth, difficult, even life-threatening as, with muscle contraction, there is an increased risk of muscle damage, allowing large molecules to leak into the general circulation, with the consequent potential for fatal renal failure. Paradoxically, exercise, when carefully and appropriately prescribed, is beneficial; improving function, well-being and quality of life. Research in this area, not only helps those afflicted patient groups but also, improves our wider understanding of metabolism and physiology and furthers knowledge on the health benefits of exercise.

Impact Statement

The work develops a programme of exercise to change the severity of the disease.  Previously thought that the severity could not be changed but it has been proven that exercise and diet can make a difference to peoples quality of life.

Research Outputs

Scalco RS, Morrow JM, Booth S, Chatfield S, Godfrey R, Quinlivan R (2017). Misdiagnosis is an important factor for diagnostic delay in McArdle disease. Neuromuscul Disord 27(9):852-855.

Scalco RS, Chatfield S, Junejo MH, Booth S, Pattni J, Godfrey R, Quinlivan R (2016). McArdle Disease Misdiagnosed as Meningitis. Am J Case Rep 17:905-908.

Godfrey R, Quinlivan R (2016). Skeletal muscle disorders of glycogenolysis and glycolysis. Nat Rev Neurol 12(7):393-402.

Nogales-Gadea G, Godfrey R, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, Arenas J, Martín MA, Lucia A (2016). Genes and exercise intolerance: insights from McArdle disease. Physiol Genomics 48(2):93-100.