RESEARCH PAPERS

The challenge in rare diseases is insufficient knowledge. This can lead to under-diagnosis, misdiagnosis, delays in diagnosis and inappropriate treatment. Research helps to address this. Here we provide links to current research, reviews, and recent papers.

Cochrane Reviews are systematic reviews of primary research in human health care and health policy. They explore the evidence for and against the effectiveness and appropriateness of treatments. There are two reviews about aspects of McArdle Disease.

IamGSD does not undertake formal research, but is able to engage the muscle GSD community in projects such as surveys and workshops. Valuable insight can be gained and this can help to inform the research agenda.

 

SELECTED PAPERS

These are published papers and articles which we believe have particular resonance for people with muscle GSD.   
CENTRE OF EXPERTISE: COMPREHENSIVE CARE FOR PATIENTS WITH MCARDLE DISEASE

Journal Rare Disorders: Diagnosis & Therapy, 2018

 

The limited prevalence of this disease translates into a global challenge of limited specialist care for patients with McArdle disease. A Centre of Expertise (CoE) represents the most expansive platform to provide patients with McArdle disease current best practice that encompass thorough assessments, accurate diagnostic methods, relevant information and guidance, multidisciplinary support and an ongoing interface between primary and specialist care.

GENOTYPIC AND PHENOTYPIC FEATURES OF ALL SPANISH PATIENTS WITH MCARDLE DISEASE: A 2016 UPDATE

Proceedings of the 34th FIMS World Sports Medicine Congress, 2017

 

The aim of this study was to update the main genotype and phenotype characteristics, as well as potential associations within/between them, of all Spanish individuals who are currently diagnosed with McArdle disease.

HIGHER OXIDATIVE STRESS IN SKELETAL MUSCLE OF MCARDLE DISEASE PATIENTS

Molecular Genetics and Metabolism Reports, 2017

 

This study examines oxidative stress in McArdle patients and suggests future studies should evaluate a potential role for oxidative stress contributing to acute pathology (rhabdomyolysis) and possibly later onset fixed myopathy.

WALKING WITH MCARDLE DISEASE: ALIENATION AND SOLIDARITY IN A RARE DISEASE JOURNEY

Rare Diseases and Orphan Drugs, 2015

 

First-hand written narratives are a particularly valuable resource for understanding the lived experience (as opposed to the medical facts) of disease. A person with McArdle disease, a very rare disorder of muscle, wrote an account of her 32-day trek across the countryside and mountains of Wales. Her narrative is in the form of a daily diary detailing the events of each day’s walking, together with her thoughts and feelings. I present an inductive and semantic analysis of this text. Prominent themes include the alienation of having a rare disease, but also a strong sense of solidarity in the journey, and the normal pleasures and tribulations of walking the British countryside.

CARDIORESPIRATORY FITNESS, PHYSICAL ACTIVITY, AND QUALITY OF LIFE IN PATIENTS WITH MCARDLE DISEASE

Applied Sciences - Journal of the American College of Sports Medicine, 2015

 

Patients showed a consistent link between higher physical HRQoL scores and higher CRF. Patients fulfilling leisure time PA recommendations showed higher CRF and physical HRQoL scores than those not meeting guideline recommendations. According to normative data for healthy subjects, CRF and physical HRQoL are severely impaired in adult patients with McArdle disease.

MISDIAGNOSIS AND DIAGNOSTIC DELAY IN MCARDLE DISEASE

Neuromuscular Disorders, 2017

 

Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease.

CAN A LOW-CARBOHYDRATE DIET IMPROVE EXERCISE TOLERANCE IN MCARDLE DISEASE

Journal Rare Disorders: Diagnosis and Therapy, 2017

 

A carbohydrate-restricted diet may provide patients with McArdle disease with a consistent energy substrate for working muscles, thereby reducing the risk of muscle damage and threat of renal failure. Further research on the use of a LCKD in McArdle disease is warranted.

EXERCISE AND PRE-EXERCISE NUTRITION AS TREATMENT FOR MCARDLE DISEASE

Medicine and Science in Sports and Exercise, 2016

 

Review of the role of exercise in McArdle disease with the aim to better inform health-care professionals and thus better serve the interests of patients. Recommendations for regular exercise together with preexercise nutrition in children and adult patients are also provided along with examples of exercise practice and its benefits.

GENES AND EXERCISE INTOLERANCE: INSIGHTS FROM MCARDLE DISEASE

Applied Sciences - Journal of the American College of Sports Medicine, 2015

 

Patients showed a consistent link between higher physical HRQoL scores and higher CRF. Patients fulfilling leisure time PA recommendations showed higher CRF and physical HRQoL scores than those not meeting guideline recommendations. According to normative data for healthy subjects, CRF and physical HRQoL are severely impaired in adult patients with McArdle disease.

GENES AND EXERCISE INTOLERANCE: INSIGHTS FROM MCARDLE DISEASE

APS Physiological Genomics, 2016

 

McArdle disease is a paradigm of human exercise intolerance and PYGM genotyping should be included in the genetic analyses that might be applied in the coming personalized exercise medicine as well as in future research on genetics and exercise-related phenotypes.

What is IamGSD?

We are a patient-led international group encouraging efforts by research and medical professionals, national support groups and individual patients worldwide.

What is Muscle GSD?

Human bodies make glucose from carbohydrates. Excess glucose is stored as glycogen in our muscles and liver. Muscle glycogen storage disease is when our muscles cannot convert their glycogen back into glucose to power our muscles.

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Site updated: 10/2020.

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