McArdle syndrome
McArdle Syndrome (also known as Glycogen storage disease type V or Myophosphorylase deficiency) is a rare, inherited metabolic disorder that affects the body's ability to metabolize glycogen in muscle cells. It is named after Dr. Brian McArdle, who first described the condition in 1951.
Overview[edit | edit source]
McArdle Syndrome is caused by a deficiency in the enzyme myophosphorylase, which is necessary for the breakdown of glycogen in muscle cells. This deficiency results in the inability of muscles to undergo glycolysis, the process by which glycogen is converted into glucose for energy. As a result, individuals with McArdle Syndrome often experience muscle weakness, fatigue, and cramps during strenuous exercise.
Symptoms[edit | edit source]
The symptoms of McArdle Syndrome typically appear in childhood or early adulthood and can vary in severity. Common symptoms include:
- Muscle weakness
- Fatigue
- Muscle cramps
- Exercise intolerance
- Myoglobinuria (presence of myoglobin in urine)
In severe cases, McArdle Syndrome can lead to rhabdomyolysis, a serious condition that can cause kidney damage.
Diagnosis[edit | edit source]
Diagnosis of McArdle Syndrome is typically made through a combination of clinical symptoms, muscle biopsy, and genetic testing. The muscle biopsy can reveal the absence of myophosphorylase in muscle cells, while genetic testing can identify mutations in the PYGM gene, which is responsible for producing myophosphorylase.
Treatment[edit | edit source]
There is currently no cure for McArdle Syndrome. Treatment is focused on managing symptoms and preventing complications. This may include a combination of physical therapy, dietary modifications, and medications to manage pain and reduce the risk of rhabdomyolysis.
Epidemiology[edit | edit source]
McArdle Syndrome is a rare condition, with an estimated prevalence of 1 in 100,000 to 1 in 200,000 people. It affects both males and females equally.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
McArdle syndrome is a rare disease.
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