Most metabolic myopathies tend to run in families, appearing at any age in those who inherit the disease. Either parent or another relative may have been symptomatic. However, metabolic myopathies can develop in a person with no family history of the condition. Most often, physicians diagnose metabolic myopathies by testing a sample of muscle tissue (biopsy), which is taken through a needle or with a small incision under local anesthesia. However, more recent techniques allow diagnosis by testing blood samples.
Treatment varies by myopathy, but is focused on changes in physical activities, aerobic exercise training, changes in diet, and the use of various vitamins or supplements.
According to the patient fact sheet writer, Robert L. Wortmann, MD, “Metabolic myopathies are rare, so diagnosis can be delayed.” Dr. Wortmann also says, “Despite the fact that metabolic myopathies are inherited, treatments can help many people with these diseases live normal lives.”
Many different diseases and conditions can cause muscle symptoms and it is important to see a rheumatologist to determine the diagnosis responsible for the symptoms.
