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Mcardle's Disease treatment
Description
According to research studies, 1 in one hundred thousand people suffer from this very rare disease of the muscles called McArdle’s disease. This disease occurs when the muscles are unable to metabolize energy thereby leading to general fatigue and breakdown during physical exertion such as – while jogging, walking or swimming. Such breakdowns during physical exercises typically lead to severe cr
amping and other painful injuries requiring immediate medical intervention. This disease is genetically inherited and results from the absence of a significant enzyme or due to its non-functioning in the process of creating glucose in the body for energy. Since it is not life-threatening even though it imposes considerable limitations on life-style, patients suffering from this disease manage to live active and generally healthy lives. The disorder derives its name from Dr. Brian McArdle who first described the disease in 1951.
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Causes
This disease is also known as myophosphorylase deficiency or Type V glycogen storage deficiency due to the fact that this disorder occurs when the skeletal muscle cells are inefficient and cannot break down glycogen to glucose. This results in blocked metabolic pathways leading to large deposits of glycogen which accumulates in the cells of the muscles.
This disease is caused by a non-functioni
ng enzyme, myophosphorylase C, which initiates the breakdown of glycogen into glucose within muscle cells during exercise. Because this metabolic pathway is interrupted, large deposits of glycogen accumulate within muscle cells.
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Prevention
The prevention tips are as follows:
• Since the disease is genetically inherited, there isn’t much that can be done in preventing its onset; however a patient can actively take steps to ensure that the disease does not incapacitate the patient and can develop a set of coping mechanisms that helps them avoid the physical and emotional discomfort associated with the disease.
• The condition cal
led McArdle’s disease has traditionally been misdiagnosed. These include symptoms of psychosis which aggravates the physical aspects of the disorder and hence needs to be diagnosed correctly and dealt with effectively. The most winning strategy for this condition is when the individual realizes that they have a problem and acknowledge the physical limitations therein; and yet within the limitations to still try and remain physically active and generally healthy.
• Injuries due to this disorder may sometimes require visits to the hospital for intravenous saline and urinalysis; and sometimes may require longer hospital stays depending on the extent of injury and recovery pattern which depends on diet, cardiovascular conditioning and related factors.
• Patients with this disorder that are middle age and above are at increased risk due to sedentary lifestyles and aging. Hence they would benefit from leading active lives and by participating in all types of physical activities that fall within the parameters of what their condition permits.
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Common Symptoms
The symptoms of this disorder are as follows:
• There is general fatigue and inability to maintain physical exertion such as jogging, walking up inclines, swimming etc.
Rare Symptoms
• The general muscle fatigue is also accompanied by cramps or muscle contractions called rhabdomyolysis that will require medical intervention for relief.
• Urine color turns dark in patients suffering from rhabdomyolysis since this disorder causes the muscle proteins such as creatinine kinase and myoglobin to mix with the blood circulation where it later passes on into urine, hence the dark co
lor or myoglobinuria a marked symptom of injury.
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Traditional Treatment
• At present there is no common consensus on what is the best known treatment for McArdle’s disease.
• There is considerable debate amongst physicians that ingesting high sugar beverages prior to exercise helps people deal better with physical activities. This is not proven by clinical studies.
• However, there have been some proven studies that reveal that a diligent adherence to carefully
monitored cardiovascular and aerobic workout provides relief and helps improve the quality of life of patients with this disorder.
• As of 2008, the only effective manner in which to manage the disease is with patience and caution and to persevere along a regimented exercise and diet plan. There is also the “second wind” phenomenon that patients with this disorder greatly benefit from a gentle warm up session prior to aerobic exercise which leads to lesser and lesser failure or breakdown symptoms. The key is in persistence and perseverance in achieving best and long-term results.
• Over a period of time, patients realize that they also are deriving a secondary benefit by adhering to the above – that to some degree their large muscle groups can be trained to behave like a normal individual. This improves the circulatory system and also ups the energy metabolization process and hence physical activity or exertion can be sustained.
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Alternative Treatment
Another method of treatment that is still in the testing phase is a regimen of aerobic exercise in order to condition those with the disease to exercise.
Treatment Comparison
Research and Development
Researchers are currently working on an enzyme replacement treatment. This is a general research treatment for glycogen storage diseases, but this would also apply to Mcardle's disease.
Mcardle's Disease Treatments
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