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Metabolic myopathy is a genetic disorder that affects the body’s ability to produce energy for muscles, causing pain and weakness after exercise. It can be caused by spontaneous mutations or inherited genes and is managed through diet and exercise changes. Genetic counseling and support groups are available for those affected.
A metabolic myopathy is a genetic disorder that interferes with the complex metabolic processes that provide energy for muscles to function. Some examples include lactate dehydrogenase deficiency, debrancher enzyme deficiency, and carnitine deficiency. These conditions cause muscle pain and weakness after relatively brief bouts of exercise and can also predispose patients to risk for problems such as cardiovascular disease and adverse reactions to anesthesia.
In some cases, a metabolic myopathy is the result of a spontaneous mutation in the genes of one of the patient’s parents. Other cases involve inherited genes, sometimes recessive traits that the parents may not have been aware of before a pregnancy. Diagnosing a metabolic myopathy can be a complex process. These conditions are sometimes mistaken for muscular dystrophies or other disorders, and extensive testing and evaluation may be needed to identify the problem and determine which enzyme deficiency is involved.
The body relies on a series of chemical reactions to turn nutrients into energy that the muscles can use for energy. A deficiency in any of the enzymes involved in this process can limit the amount of energy available to the muscles; in a metabolic myopathy, the muscles may not be able to store glycogen, for example. When the patient begins to demand power from the muscles, he quickly runs out of resources and may begin to cramp and convulse.
These conditions are not curable because they involve an underlying genetic problem that is irreparable. They can be managed, however. Changing a patient’s diet and exercise habits can solve the problem. Patients may need to avoid particular activities that may strain their muscles, and they may find it helpful to eat or avoid certain foods to support metabolic functions. The patient will need lifelong monitoring to address the disorder.
People with metabolic myopathy or a family history of this problem may wish to discuss it with a genetic counselor if they want to have children. The risks for passing on the disease can vary, depending on the nature of the condition and the parents’ genetic makeup. Organizations dedicated to various muscle myopathies can provide advice and information, as well as access to clinical studies and other resources that patients and their families may find useful. Support groups can also offer assistance to parents concerned about genetic risks who want the ability to interact with people who have these disorders so they can learn more about what to expect.
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