TürkiyeResearch and clinical trials
7 McArdle patients found in 350 muscle biopsies in Eskişehir; two had developed kidney failure
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Eskişehir, 350 muscle biopsies taken between 2013 and 2024 were reviewed retrospectively. McArdle disease was identified in seven patients. All patients tired quickly during exercise. Two patients had developed acute kidney failure due to muscle breakdown. Genetic testing found five different gene changes.
What does it mean for patients and families?
Muscle pain and dark urine brought on by exercise may suggest this disease. It is often diagnosed late; if it is suspected, it is necessary to see a neuromuscular disease specialist.
Source
Scientific paper: A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease. Journal of Pediatric Endocrinology & Metabolism, 2025. DOI: 10.1515/jpem-2024-0622 · PubMed 40960216
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: McArdle disease (glycogen storage disease type V)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.