McArdle’s Disease is a genetic condition that is rare and is usually associated with muscle pain and a lot of cramping. It is associated with the inability to produce phosphorylase or myophosphorylase, which is an enzyme useful for breaking down glycogen (Kaczor, Robertshaw & Tarnopolsky, 2017). In the lack of the enzyme, the stored form of sugar, glycogen, cannot be used for the production of energy during exercise. People who have this hereditary condition experience extreme pain in their muscles when they start exercising. This problem is worsened when a person continues to damage. Exercising through the pain may cause the triggering of muscle spasms that can eventually lead to the damage of muscles.
Weakness and stiffness of muscles is the other symptom that is experienced with this disease. Carrying heavy objects has been found to trigger symptoms of this condition in the arms. Other activities like sawing or digging that may affect muscles of the back also may lead to the development of this disease. Painful muscles of the jaw while chewing is another symptom that accompanies McArdle’s disease (Nogales-Gadea, et al., 2016). Difficulties and pain during walking also result due to the skeletal muscles being affected.
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McArdle’s Disease starts at birth but is often diagnosed in most people’s young adulthood. Most people with this disease report having muscle spasms that they ignored during childhood (De Castro, Johnston & Biesecker, 2015). During diagnosis, a blood test is carried out to check the levels of Creatine Kinase (CK), which is a muscle enzyme. When present at high levels, it is an indicator of muscle damage. Muscle biopsy has also been another way of diagnosing this condition. Currently, advances in research have allowed for the diagnosis of this disease through genetic testing. One common complication associated with this condition is the breaking down of skeletal muscle tissue.
References
De Castro, M., Johnston, J., & Biesecker, L. (2015). Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genetics in medicine, 17(12), 1002.
Kaczor, J. J., Robertshaw, H. A., & Tarnopolsky, M. A. (2017). Higher oxidative stress in skeletal muscle of McArdle disease patients. Molecular genetics and metabolism reports, 12, 69-75.
Nogales-Gadea, G., Santalla, A., Ballester-Lopez, A., Arenas, J., Martín, M. Á., Godfrey, R., ... & Lucia, A. (2016). Exercise and preexercise nutrition as treatment for McArdle disease. Med Sci Sports Exerc, 48(4), 673-679.
