The McArdle disease has been classified as a 'rare disease'. It has a genetic origin and is caused by a defect in the gene that produces an enzyme called glycogen phosphorylase. As a result of this, the body of people who have this disease cannot break down glycogen in the muscles. Among other symptoms, it manifests with muscle pain after exercise, cramps, fatigue, myoglobin in the urine, and even severe renal failure.

A group of 36 McArdle patients, people who supposedly presented intolerance to exercise—a significant number due to the exceptional nature of this condition—has served as a human model for the study of diseases in the field of this research, published in the journal Medicine and Science in Sport and Exercise (MSSE). The work describes for the first time that this type of patients, during their youth, already have low levels of bone mineral content, which over the years, can provoke serious musculoskeletal problems (for example, severe osteoporosis). However, the study also describes that in those patients who are more active and who perform a sufficient and adequate level of supervised physical exercise, this problem can be reduced.

The main conclusion that can be drawn, explained by the group ‘GENUD Toledo’, is that "McArdle patients with a more active lifestyle can stop these types of problems whose origin, among other causes, could be related to the small amount of muscle mass that this type of patients usually present by their habitual lifestyle." The group, headed by Professors Ignacio Ara and Luis Alegre, has extensive experience in the field of physical activity and its relationship with health and lifestyles in different populations. The evaluation of patients was carried out in the Laboratory of Physical Activity and Muscular Function of the Faculty of Sports Sciences of Toledo, where the main author of the study, Irene Rodriguez-Gómez, develops her doctoral studies, who has been granted with a predoctoral scholarship for the Research Staff Training (FPI Grant), in the framework of the UCLM's own R & D & I Plan.

UCLM and UEM collaboration

The project is the result of a collaboration between the aforementioned UCLM researchers and the research group headed by Professor Alejandro Lucía in the UEM, one of the world leaders in the study of the main effects of physical exercise on people with this type of pathology, and has received funding from the Real Madrid-UEM Chair (P2016 / RM25) and from the Health Research Fund (PI15/00558).

This collaboration also includes the celebration for the second consecutive year in Toledo of the VIII International Congress of Glycogen storage disease, which will be held from 21 to 24 September, organized by the Spanish Association of Patients with the Glycogen storage disease (AEEG, for its acronym in Spanish) with the attendance of patients from all over Spain.

Office of Communications, UCLM. Toledo, September 14, 2017