What is metabolic myopathy?
Metabolic myopathy is a genetic disorder that disrupts the complex metabolic processes that provide muscles of energy for functioning. Some examples include lack of dehydrogenase lactate, lack of debrancher enzyme, and carnitine deficiency. These conditions cause muscle pain and weakness after relatively short episodes of exercise and can also predict patients to risk problems such as cardiovascular disease and side effects on anesthesia. Other cases include inherited genes, sometimes recessive features that parents may not have known about pregnancy. The diagnosis of metabolic myopathy can be a complex process. These conditions are sometimes wrong with muscle dystrophy or other disorders, and extensive testing and evaluation may be necessary to identify the problem to see which lack of the enzyme is involved.
The body relies on a number of chemical reactions to turn nutrients into energy that muscles can use for energy. Deficiency in any of the enzymes involved dThis process can reduce the amount of energy available to the muscles; In metabolic myopathy, muscles may not be able to store glycogen. When the patient begins to demand energy from the muscles, they quickly run out of resources and can begin convulsions and seizures.
These conditions are not cured because they include a basic genetic problem that is out of repair. However, they can be controlled. The problem can be dealt with by changing the diet and exercise habits of the patient. Patients may have to avoid specific activities that could burden their muscles and could consider it useful to eat or avoid certain foods to support metabolic functions. The patient will need monitoring throughout life to solve the disorder.
People with metabolic myopathy or the family history of this problem may want to discuss with a genetic advisor if they want to have children. Risks for passing on the disease may vary independence on the nature of the condition and the genetic composition of the parents. Organizations devoted to various muscle myopathies can provide advice and information and access to clinical evaluation and other sources that patients and their families can consider to be useful. Support groups can also offer assistance to parents who are afraid of genetic risks who want to communicate with people who have these disorders to learn more about what to expect.