MCARDLE DISEASE Meaning and
Definition
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McArdle Disease, also known as Glycogen Storage Disease Type V (GSD-V) or myophosphorylase deficiency, is a rare genetic disorder that affects the metabolism of glucose in the body. It is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the defective gene to develop the disease.
The disease is characterized by a deficiency of the enzyme myophosphorylase, which plays a crucial role in breaking down glycogen stored in muscles to provide fuel during physical activity. Without this enzyme, glycogen cannot be converted into glucose, leading to an impaired energy supply to the muscles. As a result, individuals with McArdle Disease experience muscle weakness, fatigue, and cramps during exercise, and may even be unable to perform strenuous activities.
Symptoms typically emerge in childhood or adolescence, but the severity can vary among affected individuals. Additionally, muscle damage caused by the breakdown of muscle fibers during exercise can lead to the release of myoglobin, resulting in dark-colored urine (myoglobinuria) following physical exertion.
Diagnosis of McArdle Disease involves a combination of clinical evaluation, laboratory tests, and genetic testing to confirm the presence of mutations in the PYGM gene responsible for myophosphorylase deficiency.
There is currently no cure for McArdle Disease; however, management strategies focus on avoiding strenuous exercise and maintaining a balanced diet to optimize energy levels. Mild to moderate aerobic exercise and physical therapy may also be beneficial in improving muscle function and enhancing overall quality of life for individuals with the condition.
Common Misspellings for MCARDLE DISEASE
- ncardle disease
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Etymology of MCARDLE DISEASE
The term "McArdle Disease" derives its name from the physician who first described the condition. McArdle Disease, also known as Glycogen Storage Disease Type V (GSDV), is named after Dr. Brian McArdle, a British physician. In 1951, Dr. McArdle published the first detailed case report on a condition characterized by exertional muscle pain, muscle cramps, and exercise intolerance, which is now known as McArdle Disease.
