Metabolic myopathy
Metabolic Myopathy
Metabolic myopathy (/mɪˈtæbəlɪk maɪˈɒpəθi/) is a group of disorders characterized by defects in the biochemical pathways of muscle energy production and utilization.
Etymology
The term "metabolic myopathy" is derived from the Greek words "metabole" meaning change, "myo" meaning muscle, and "pathos" meaning suffering.
Definition
Metabolic myopathies are a group of genetic disorders that impair the body's ability to metabolize food into energy, leading to muscle weakness and other symptoms. These disorders can be caused by defects in the enzymes involved in the biochemical pathways of muscle energy production and utilization.
Types
There are several types of metabolic myopathies, including:
- Glycogen storage diseases: These are caused by enzyme deficiencies that affect the processing of glycogen, a stored form of glucose that provides energy to the body.
- Mitochondrial myopathies: These are caused by mutations in the DNA of mitochondria, the energy-producing structures in cells.
- Lipid storage diseases: These are caused by the inability of the body to metabolize fats or proteins properly.
Symptoms
Symptoms of metabolic myopathies can vary widely, depending on the specific disorder and its severity. Common symptoms include muscle weakness, fatigue, muscle cramps, and intolerance to exercise. In severe cases, these disorders can lead to serious health problems such as heart disease, respiratory problems, and liver disease.
Diagnosis
Diagnosis of metabolic myopathies typically involves a combination of clinical evaluation, laboratory testing, and genetic testing. Muscle biopsy may also be performed to examine the muscle tissue for signs of disease.
Treatment
Treatment for metabolic myopathies is primarily supportive and aims to manage symptoms and prevent complications. This may include dietary modifications, physical therapy, and in some cases, medication or surgery.
See Also
External links
- Medical encyclopedia article on Metabolic myopathy
- Wikipedia's article - Metabolic myopathy
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