McArdle disease, also known as glycogen storage disease V is a metabolic disease to muscles. McArdle disease, even though it is rare and is difficult to manage. This is a genetic disease, so if your ancestors have had it, then there is a chance of you getting it too. The onset of this disease is in your early 10s but isn’t usually diagnosed until late in your life. There is no permanent cure for such diseases. Still, knowing your family history, you can take few precautionary measures to delay the onset of these diseases. There are also a few things to slow the progression of this disease and should be learned early on in your disease.
McArdle disease, as we already know, is a metabolic disease. In this disease, an enzyme from your muscles is missing, which is known as myophosphorylase. To understand everything in detail, you should know that your body needs energy in the form of glucose to perform almost all the functions. This glucose comes from your food intake. From there, the glucose enters the bloodstream and then finally in your body, Sometimes the excess glucose is stored in your body in the form of glycogen in your liver and muscles as well. The glycogen is used for functioning when you have lower blood glucose levels. Still, unfortunately, in McArdle disease, you cannot get the glycogen converted into glucose to be utilized by the muscles. This happens. The result of this whole thing is that you will get tired easily while doing strenuous exercise. This will leave your muscles aching and will make you even more tired. McArdle disease symptoms start to appear at the age of 15, so it can be easily diagnosed that early in your life.
Causes of McArdle’s disease
Since McArdle disease is a genetic disorder, you inherited this disease is the main reason behind McArdle disease. It is the only reason behind this disease. The gene that is responsible for making the myophosphorylase enzyme is mutated and doesn’t work well. When you have inherted2 mutates genes, this could result in recessive inheritance, and the disease will be there. But if you have inherited only one of the genes, you may sometimes represent some of the symptoms. Still, you don’t exactly have the disease. These mutated copies of the genes are the real and only reasons behind this disease. Due to that, your body lacks an important enzyme, myophosphorylase, for the glycogen to glucose conversion.
McArdle’s disease symptoms
Usually, it is difficult to find out about McArdle disease because the symptoms can be easily confused with just fatigue. Following are some of the symptoms, and these symptoms may start to appear even before 15 years of your age. The main symptoms revolve around being excessively getting tired with a little bit of strenuous exercise. This may not occur with just simple walking, so people don’t take it very seriously. Following are some of the symptoms of McArdle disease symptoms.
- Pain in your muscles is a very common symptom of this disease
- Muscles cramping after some activity is also observed along with the pain.
- You will experience stiffness or weakness in your muscles and will be easily tired after some activity.
- You can exercise again after resting for some time. This type of phenomenon is known as a second-wing phenomenon.
- You will see the brownish-red urine, especially after some exercise, and this is the clearest sign of McArdle’s disease.
- Usually, the tiredness vanished after a small amount of rest. Still, in some cases, the patients may experience lasting weakness and cramps in certain parts of the body, like their thighs, which happens only in a small number of people.
Since it starts early with McArdle’s disease, people usually confuse these pains with something else entirely. And the severity of these symptoms varies from time to time. So, it is not easy to pinpoint this disease.
How the diagnosis of McArdle’s disease is done
A healthcare professional does McArdle disease diagnosis by a series of tests on your muscles. But even before that, your medical history and family history say a lot about this since it is a genetic disease. Following are some of the other things that help in the diagnosis of McArdle’s disease
- Urine tests will define the presence of myoglobin in it, which turns the urine dark.
- The muscle biopsy for the glycogen levels in them
- Muscle electromyography to see the muscle activity.
- Muscle MRI is also done to see the detailed condition of muscles.
- Blood tests to check the presence of muscle enzymes like creatinine kinase.
- The DNA tests to see the mutations in the genes.
- Seeing a general practitioner for this will help you so that he or she can refer you to a neurologist who will deal with your case in more detail.
Treatment of McArdle’s disease
Since there is no cure for this disease available, there are ways that you can manage this disease, and that would be only McArdle disease treatment. Exercise is good, but there should be a limit to it, and your healthcare provider should decide that. No matter how much you put your efforts in, you shouldn’t be overdoing your physical activity as they can damage your muscles and your kidneys as well. A diet to keep your muscles healthy and your overall health in check while maintaining the glucose and glycogen levels in your boy is important. There are a few things that can be used to maintain this disease
- You should take carbohydrates rich diet
- Creatinine supplements are also given to the patients in some cases.
- Your doctor will decide the sucrose levels you have to take each day to maintain your bodily functions. This should be done especially before an exercise. Some other medicines are also prescribed, and those include ACE inhibitors as well.
These are all the things that can be done to manage this disease or slow down the progression of this disease. There is no way to stop it completely, so the best you can do is learn to live with it.