MCARDLE'S DISEASE

McArdle's Disease is a metabolic disorder where skeletal muscle cells can't break down glycogen into glucose. It is also know around the medical field as myophosphorylase or Type V glycogen storage disease. It was discovered in 1951 by Doctor Brian McArdle

SYMPTOMS

• Premature muscle fatigue
• Muscle contractions known as rhabdomyolysis
• Rhabdomyolysis can cause the release of creative kinase and myoglobin into the urine, turning it a burgundy red
• Can't sustain moderate physical activity such as walking

Because of the non functioning enzyme, glycogen phosphorylase C, the energy demands of the cell cannot be met. Diagnosis of the disease typically does not happen until the ages of 12 or 13 when the symptoms are clearly visible

The genetic mutations associated with it follow an autosomal inheritance pattern. It requires two defect copies of the gene in order for the disease to manifest and spread throughout the rest of the body

McArdle's Disease follows a 94 enzyme probe sequence. Out of all of them, only one Mspl polymorphism exists. Some of the basic chain attachments are missing, which is part of what causes the mutation in the first place

The tissue in particular that is affected is the muscle tissue because they are broken down the more tired the patient becomes. The more severe the episode, the more myoglobin the tissue releases which is what will turn the urine a burgundy red. It is overall weakened as the disease progresses.

The only internal organ affected by McArdle's Disease is the bladder. It is affected because of the change of the urine color with the release of myoglobin and creating kinase into the bloodstream

Homeostasis is affected because it is a metabolic disease that prevents skeletal muscle cells from breaking down glycogen into glucose which energizes the cell, this prevents it from metabolizing properly

TREATMENT

• There is no cure for McArdle's Disease
• Can ease by improving exercise tolerance
• Control physical activity
• Maintain a healthy diet and have a steady supply of glucose
• Avoid anesthesia if at all possible

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