Metabolic Myopathies

Metabolic Myopathies md top10mdMetabolic myopathies are a genetic disorder that affects the muscles. The metabolism is a result of chemical reactions. These reactions keep us living and thriving. Any breakdown in the metabolism can have damaging effects on the other parts of the body. Myopathy relates to diseases of the muscle tissue. The disease is rare and can sometimes be misdiagnosed. Muscles are important for survival. When our muscles are weak, we lose the ability to move and do a lot of things. It is not about having big muscles; it is about having muscles that function properly. If you or someone you know suffer from metabolic myopathies, the good news is treatment can help you regain your control and stability.


We all have muscles. Some of us have strong, noticeable muscles, whereas others have pretty weak muscles. Just because you are not cut up does not mean you do not have muscles. Without muscle, you would not be able to move at all. If you are an athlete, you understand the importance of getting stronger and building the muscles up so that you can perform better. The average person does not always pay attention to that. The only thing you may pay attention to is your body fat percentage compared to your muscle percentage. Sometimes we ignore the importance of muscle unless we are working out. What you may not realize is that muscles are holding our heads up, giving us the ability to walk, and even allowing us to sit up straight. When you have muscle weakness or lose muscle tone, you lose the ability to do all those things. Some muscle disorders are untreatable, but there are a few, like metabolic myopathy, that can.

Metabolic Myopathies

Metabolic myopathies are not one disease. It is a category of muscle disorders. For muscles to work, the metabolism works to give it energy. When there is a lack of energy, there is an inability to function properly. The disorder causes a complete block of energy production. The next step is a lack of communication. When you want to run you may not tell your legs to go out loud, but your brain communicates to the legs to move. The lack of metabolic activity disrupts that communication. What we know about communication from the brain to other parts of the body is that it is done through nerves. The question you may have is what do nerves have to do with the metabolic process. Chemicals produced by the metabolism are a part of that communication. Without the chemicals reaching the nerves, there is no communication.

Metabolic Process

For the muscles to move, you need what is called ATP (adenosine triphosphate). When we eat or drink, the sugar and fat get turned into ATP through a chemical reaction. The enzymes help with the production of ATP. Without certain enzymes, the reaction cannot proceed. In the case of metabolic myopathies, there is a lack of enzymes, and subsequently, the muscles lack ATP because there is not enough being produced. No ATP, no energy.


The symptoms of metabolic myopathy are vast. Some people do not have any symptoms. Others are unable to walk. This phenomenon is due to ATP production. Anyone with metabolic myopathy has a problem producing ATP. There is not just one way in which the body makes ATP. There are other processes the body can go through to make ATP. When one pathway does not work, the body will get the ATP it needs in another way. Some people still cannot make enough ATP, and they end up with symptoms. Fatigue is extremely common. You may find that you can not exercise because you just do not have enough energy to get through a workout. The muscles will become weak and in more severe cases, they will atrophy.

Metabolic Myopathies md top10mdDiagnosis and Treatment

It is sometimes difficult to diagnose metabolic myopathies because they get confused with other muscle disorders like muscular dystrophies. The best way to diagnose the disorder is by taking a biopsy of the muscle tissue. Doctors are also using blood samples to help diagnose the disorder. The treatment of the disease is fairly simple. The doctor starts with your lifestyle. They give you vitamins and help you with improving your diet. They also get you on a regular exercise regimen. It is rare that you need anything else to treat the disorder. When you stop doing these things, your disorder will worsen. It takes discipline to exercise and eat properly, but in the end, it is worth it.

Metabolic myopathies are not the most familiar muscle disorder. Understanding the disorder brings awareness. Metabolic myopathies can affect any of us. If you understand the symptoms, you can get the treatment you need. The disorder does not have to keep you debilitated. Diet and exercise changes can make all the difference.


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