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McArdle’s Disease – Muscle Weakening

February 19, 2013

Weak LegsMcArdle’s disease – also known as myophosphorylase deficiency or Type V glycogen storage disease – is a muscle disease affecting approximately 1 in 100,000 people. This disease is caused by a missing or non-functioning enzyme, myophosphorylase C, which breaks down glycogen into glucose within muscle cells during exercise. Thus, it is a metabolic disorder in which skeletal muscle cells are unable to break down glycogen into glucose.  Because this metabolic pathway is interrupted, the energy demands of the cell cannot be met.

Because their muscles cannot properly metabolize energy, individuals with McArdle’s disease may experience fatigue and failure during strenuous activities like jogging, swimming or even walking. These episodes can result in painful cramping injuries that require medical attention.

People with McArdle’s disease have had the disease from birth, although many people aren’t formally diagnosed until much later in life. Because most individuals who have the condition appear physically healthy but experience premature fatigue, weakness and pain during exercise, McArdle’s disease has historically been confused with being out of shape or unwilling to exercise.

While this condition imposes significant physical limitations, it is not directly life-threatening and with the proper precautions and lifestyle management, people who have McArdle’s Disease can live healthy, active lives.



From → Health, Pain, Weak Muscles

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