Journal of Rare Disorders: Diagnosis & Therapy

Toward An Understanding of Mcardle Disease: A Cross-Sectional International Questionnaire Study

Context: McArdle disease is a rare disease of skeletal muscle metabolism which is caused by a deficiency of the enzyme muscle glycogen phosphorylase. Current research literature highlights clinical features, manifestations of acute crises and varying treatment modalities; however, it fails to identify how GSDV impacts the day-to-day lives of those affected.

Objective: This patient-led tsudy aimed to enhance understanding of the day-to-day experience and healthrelated quality of life of individuals with McArdle disease (glycogen storage disease type 5).

Methods: An online survey for this patient cohort was developed, with patient reported outcomes on diagnosis, physical activity/exercise, nutrition, psychosocial aspects, pain, pregnancy, adverse events, care, and health related quality of health.

Results: Two-hundred and ninety participants across 16 countries completed the survey, which showed a long diagnostic delay, frequent misdiagnosis prior to accurate diagnosis, and co-morbidities-low-back pain, hypercholesterolemia, hypertension, (pre) diabetes and gout. A third of the participants engaged in physical activity/ exercise - mostly walking ≥ 15min, ≥5d/wk. Muscle pain/ fatigue were frequently reported as barriers to physical activity; ~1/3 of participants experienced ≥1 rhabdomyolysis episode within a 12 months period; >50% reported an emotional impact of GSDV.

Conclusions: This exploratory study examined the patient experience for individuals diagnosed with GSDV and highlights common issues.

Author(s): Stacey L Reason1*, Renee Cadzow2, Briana J Jegier3, Amy Nwora4, Alejandro Lucia5, Andrew Wakelin6, RM Quinlivan7 and Nicol C Voermans8

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