Metabolic diseases of muscle – how can you tell if they affect you?

Metabolic diseases of the muscles are metabolic myopathies that act as abnormalities of the muscles and have as the result skeletal muscle dysfunctions. These health issues were discovered quite late, in the 20th century. There are multiple metabolic myopathies people are dealing with, and every one of them seems to be caused by a different genetic defect. In order for a person to move, they need to have functional muscles. But muscles can function properly only if they take the needed amount of energy from the body.

Metabolic diseases of the muscles appear when chemical reactions interfere in the body’s process of taking energy from food. When the levels of energy drop, people experience exercise intolerance and muscle weakness, and they are not able to move properly, because they are in pains. Very few cases of myopathies are not caused by lack of energy, but by unused molecules that remain inside the muscles. When this happens patients experience cells damage and chronic weakness.

Why do people suffer from metabolic diseases of muscle?

Inside the body of a healthy person who does not suffer from this issue, the molecules resulted from the food they ate are broken down inside the cells. If you are healthy your cells will be able to produce energy, because inside every one of them there is mitochondria that processes the molecules came from food. If you suffer from one of the multiple types of myopathy, then some of the molecules derived from food are processed before getting to the cells, and your muscles do not receive the needed energy to function properly.

Do you have myopathy symptoms?

The persons who experience these metabolic diseases of muscles have symptoms as respiratory issues, myoglobinuria, cardiac issues, exercise intolerance and muscle weakness.

There are high chances the patients who suffer from acid maltase deficiency, carnitine deficiency or debrancher enzyme deficiency to also experience heart issues.

If you notice that you are not able to perform some exercises from your training, because you feel tired, then you should see a doctor, because you may suffer from a type of myopathy. Different disorders lead to intolerance for different exercises. If you have this health issue you will also experience painful muscle pains during training.

Muscle weakness is the result of exercise intolerance and loss of strength as a result of aging. Depending on the type of metabolic disease of muscle you experience the degree of weakness you feel will vary. In the majority of cases the patients who experience this symptom do not get to use a wheelchair.

If you suffer from myogloburina then there will be myoglobin present in your urine. When a person experiences acute muscle breakdown, the proteins from their muscles are released into their blood and from there into their urine. If you do not treat this symptom, then you may experience kidney damage on a long term.

Your respiratory muscles can be affected by debrancher enzyme deficiency or acid maltase deficiency. If you suffer from one of these disorders, and you do not treat it, you may need mechanical respiratory assistance. In order to get the right diagnose you should consult an experienced doctor.

Muscular dystrophies – definition, types, causes and symptoms

Muscular dystrophy means a group of progressive muscular diseases without a pathology. These sorts of diseases affect the muscles and eventually produce permanent degeneration of the muscle fibers. Several studies in molecular biology have shown that the main cause of the apparition of muscular dystrophies has to do with genetic defects. These defects sit behind muscle weakness and pseudohypertrophy. Sometimes, mental affections can occur as a side effect of muscular dystrophies because the protein that’s affected genetically it’s also found in the brain.

Because all muscular dystrophies are progressive, the muscle strength will be compromised gradually. The cardiopulmonary function is affected as well. In the same time, once the muscles around the spine become weaker, the patient might suffer from a faulty posture which will later lead to spinal deformities and a deficiency in maintaining balance. These effects compromise the patient’s quality and duration of life. Sooner or later, the patient will be constrained to a wheelchair, not being capable to move. At this point, a deterioration in the functionality of the patient’s lungs is visible. If the patient previously suffered from cardiopulmonary conditions, this deterioration may cause death. This is the reason why patients suffering from muscular dystrophies should follow orthopedic treatments for as long as possible.

The most common muscular dystrophy diseases include:

  • Duchenne (DMD)
  • Becker’s
  • Emery-Dreifuss
  • Facio-scapulo-humeral
  • Distal
  • Ocular-pharyngeal
  • Myotonic
  • Congenital
  • Limb-girdle

The causes behind muscular dystrophies are various. They are usually related to a pathological genetic code for different proteins found in the muscle (e.g. dystrophin). The lack of such proteins causes cellular instability, thus producing a progressive loss of intracellular structures. These effects can further lead to elevated levels of the CPK (creatine phosphokinase) enzyme. In dystrophies such as Duchenne and Becker, muscle cells die gradually, and the space left behind is filled with macrophages. This is the definition for pseudohypertrophy. Sometimes, muscular dystrophies are caused by the alteration of glycoproteins in the body (encoded in other chromosomes than the regular chromosome X).

The symptoms of muscular dystrophies are not usually noticeable from birth. In the case of Duchenne muscular dystrophy, doctors will recommend early screenings only if another case of muscular dystrophy is present in the family. Muscular dystrophies start to become noticeable anywhere between childhood and adulthood. The most frequent symptoms include:

  • Loss of muscle mass
  • Visible difficulty when walking
  • Instability
  • Pain in the muscles
  • Limited movement
  • Breathing difficulties
  • Patella syndrome
  • Scoliosis

Duchenne muscular dystrophy is considered a terminal disease, as its progression is fatal for the patient due to cardiopulmonary failure. Respiratory failure can be caused by nocturnal or hypoxic hypoventilation or a respiratory infection that progresses too fast to be treated. Becker’s is similar to Duchenne, but the symptoms are less severe, and they start developing later in a patient’s life. Each type of muscular dystrophy triggers different symptoms depending on the area that’s affected. In Emery-Dreifuss muscular dystrophy, the biggest risk for a patient is represented by atrioventricular blocks. As for facial-scapulo-humeral dystrophy, the disease causes dysarthria and dysphagia. It is important that the patient runs a CPK screening to find out the exact type of muscular dystrophy he is suffering from. Symptoms alone cannot determine the type of the disease.