Saturday, September 7, 2019

What is McArdle disease? Symptoms and causes of McArdle disease - Healthintimation

What is McArdle disease?


McArdle is a rare muscle disease or disorder. In this disease, glycogen, sugar and glucose are changed in the muscles of our body. McArdle disease is part of glycogen storage disease, called glycogen storage disease type V.

What is McArdle disease? Symptoms and causes of McArdle disease

Glycogen is a main source of energy for our body. Glycogen provides energy to our body which remains in our body as a simple sugar. The digestive system sends large amounts of glucose to the blood cells while eating. During this process our blood sugar level increases. Our body extracts excess glucose from the blood to stabilize it and by converting the remaining excess glucose into glycogen, it stores it in the liver and muscles.

When we do not eat, our blood glucose levels start decreasing, at this time our body uses some of the previously saved glycogen to get energy into the body. When the amount of glucose in our body is low, our body breaks down into glycogen glucose which supplies extra glucose in our body.

A constant supply of glucose is necessary for our body and muscles to function well. People who have McArdle disease will feel a lack of energy in the muscle or the muscle will be weakened.  After this disease, an element called an enzyme starts disappearing in your body, which means that glycogen will not change glucose when your body needs energy.  Enzyme is a very important substance for our body because the enzyme itself helps to break down glycogen into glucose.

A disorder is often seen in young children (up to the age of 15), although the condition has occasionally been seen in adults.

Symptoms of McArdle disease

Symptoms of McArdle disease appear in the muscle, meaning that most of the symptoms of the disease are due to muscle. During this disease you will have trouble exercising or working without tiredness but you will not have any problem in walking. Whenever you do vigorous exercise or work then you will feel tired, so it is necessary to rest after a short time.

Most symptoms of McArdle disease are noted by patients before the age of 15, but some people still feel the symptoms after 15 years.  Symptoms of this disease may be more or less with age. Some common symptoms seen in this disease are: 

• Muscle pain

• Weak muscles

• Low blood sugar

• Muscle cramps

• Shortly after starting the exercise you will feel a lot of weakness in your muscle

• You will get tired very quickly while working

• Permanent weakness in the patient's thigh or other muscles



Causes of McArdle disease


McArdle disease rarely occurs in humans. Is an inherited disease, so the main cause for this is genes, which are usually from your parents' genes. Your muscle converts glucose into glycogen with the help of enzymes that give you energy when you need it. Changes in your genes cause McArdle disease. Because of this change, your muscle cells cannot make this enzyme, so glycogen will not break down into glucose.

This gene change in children usually comes from parents. In a sick human, 2 copies of the mutated gene come from his parents, which is the cause of McArdle disease.



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