Duchenne muscular dystrophy: what it is, symptoms and treatment

Duchenne muscular dystrophy is a rare genetic disease that affects only men and is characterized by the lack of a protein in the muscles, known as dystrophin, which helps to keep muscle cells healthy. Therefore, this disease causes a progressive weakening of the entire musculature of the body, which makes it more difficult for the child to reach important developmental milestones, such as sitting, standing or walking.

In many cases, this disease is only identified after 3 or 4 years of age when the child has changes in the way of walking, running, climbing stairs or rising from the floor, since the areas that are affected first are the hips, the thighs and shoulders. With advancing age, the disease affects more muscles and many children end up dependent on a wheelchair at around 13 years of age.

Duchenne muscular dystrophy has no cure, but its treatment helps to delay the development of the disease, control symptoms and prevent the onset of complications, especially at the cardiac and respiratory levels. Thus, it is very important to have treatment with a pediatrician or other doctor who specializes in the disease.

Main symptoms

The main symptoms of Duchenne muscular dystrophy are usually identifiable from the first year of life and up to the age of 6, progressively worsening over the years, until, at around 13, the boy becomes dependent on the wheelchair.

Some of the most common signs and symptoms include:

• Delayed ability to sit, stand or walk; Stagger or have difficulty climbing stairs or running; Increased volume in the calves due to the replacement of muscle cells with fat; Difficulty moving the joints, especially bending the legs.

From adolescence, the first more severe complications of the disease may begin to appear, namely, difficulty in breathing due to the weakening of the diaphragm and other breathing muscles, and even heart problems, due to the weakening of the heart muscle.

When complications start to appear, the doctor can adapt the treatment to try to include the treatment of complications and improve the quality of life. In the most severe cases, hospitalization may even be necessary.

How to confirm the diagnosis

In many cases, the pediatrician is suspicious of Duchenne muscular dystrophy only by assessing the signs and symptoms presented during development. However, blood can also be made to identify the amount of some enzymes, such as creatine phosphokinase (CPK), which is released into the blood when muscle breakdown occurs.

There are also genetic tests, which help to arrive at a more conclusive diagnosis, and which look for changes in the genes responsible for the appearance of the disease.

How the treatment is done

Although Duchenne muscular dystrophy has no cure, there are treatments that help to prevent its rapid worsening and that allow you to control symptoms, as well as the appearance of complications. Some of these treatments include:

1. Use of medicines

In most cases, Duchenne muscular dystrophy is treated with corticosteroid medications such as prednisone, prednisolone or deflazacort. These drugs should be used for life, and have the action of regulating the immune system, acting as an anti-inflammatory and delaying the loss of muscle function.

However, prolonged use of corticosteroids usually causes several side effects such as increased appetite, weight gain, obesity, fluid retention, osteoporosis, short stature, hypertension and diabetes, and should only be used under the supervision of the doctor. Check out more about what corticosteroids are and how they affect health.

2. Physiotherapy sessions

The types of physiotherapy normally used to treat Duchenne muscular dystrophy are motor and respiratory kinesiotherapy and hydrotherapy, which aim to delay the inability to walk, maintain muscle strength, relieve pain and prevent respiratory complications and bone fractures.

What is the life expectancy

The life expectancy for Duchenne muscular dystrophy was between 16 and 19 years old, however, with the advance of medicine and the emergence of new therapies and care, this expectation has been increased. Thus, a person who undergoes the treatment recommended by the doctor can live beyond the age of 30 and have a relatively normal life, with cases of men living more than 50 years with the disease.

Most common complications

The main complications caused by Duchenne muscular dystrophy are:

• Severe scoliosis; Difficulty breathing; Pneumonia; Heart failure; Obesity or malnutrition.

In addition, patients with this dystrophy may experience moderate mental retardation, but this characteristic is not linked to the duration or severity of the disease.

What causes this type of dystrophy

As a genetic disease, Duchenne's muscular dystrophy happens when a mutation occurs in one of the genes responsible for causing the body to produce the dystrophin protein, the DMD gene. This protein is very important because it helps muscle cells to stay healthy over time, protecting them from injuries caused by normal muscle contraction and relaxation.

Thus, when the DMD gene is altered, not enough protein is produced and the muscles end up weakening and suffering injuries over time. This protein is important both for the muscles that regulate movement, as well as for the heart muscle.