Mcardle's Disease (Noun)
Meaning
An inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping.
Classification
Nouns denoting natural processes.
Examples
- McArdle's disease is a rare genetic disorder that affects the body's ability to break down glycogen in the muscles, leading to muscle cramps and weakness.
- The patient was diagnosed with McArdle's disease after experiencing recurring episodes of muscle cramping and fatigue during physical activity.
- McArdle's disease is caused by a deficiency of the enzyme myophosphorylase, which is necessary for the breakdown of glycogen in skeletal muscle.
- Symptoms of McArdle's disease typically begin in childhood or adolescence and may worsen over time, leading to significant disability.
- Researchers are working to develop new treatments for McArdle's disease, including gene therapy and enzyme replacement therapy.