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Disease Results


  • Metabolic myopathies are rare genetic diseases that cause muscle problems. Not all people with a metabolic myopathy experience the same symptoms.
  • Despite the fact that metabolic myopathies are inherited, treatments can help many people with these diseases live normal lives.
  • Treatment is focused on changes in physical activities, aerobic exercise training.
  • The diet, levels of physical activity and dietary supplements recommended for treatment will vary depending on the myopathy.

Metabolic myopathies are genetic diseases, usually inherited, that affect the body’s muscles. Metabolic refers to chemical reactions that provide energy, nutrients and substances necessary for health and growth. Some people with a metabolic myopathy (muscle disease) develop weakness; others tire easily with exercise or physical activity, suffer muscle pain after physical effort, and/or experience severely swollen and tender muscles. These symptoms occur when muscle cells don’t get enough energy. Without enough energy, the muscle lacks enough fuel to work properly.

Most metabolic myopathies are genetic and tend to occur within families. They can appear at any age in those who inherit the disease. Either a parent or another relative may have been symptomatic. However, metabolic myopathies can develop in a person with no family history of the condition.

Source: American College of Rheumatology