Duchenne muscular dystrophy is a genetic disease that causes progressive and irreversible muscle wasting (atrophy). It is a sex-linked disease - it is mainly activated in boys. What are the causes and symptoms of Duchenne dystrophy? Is Duchenne disease curable? How is rehabilitation in Duchenne dystrophy going?

Duchenne muscular dystrophy (DMD) , isgenetic diseasewhich is one of the most common and rapidly progressing neuromuscular disorders in childhood. It affects one in three thousand boys.

Duchenne dystrophy: causes

The cause of this dystrophy is a genetic defect, namely various mutations in the DMD gene, responsible for coding a protein (dystrophin) that helps maintain the normal structure of muscle cells. As a result of this genetic abnormality, the muscles are deprived of dystrophin, which results in their atrophy and paresis, gradually causing more and more difficulties in walking and general movement.

The defective gene is only inherited from the mother who carries it.

Duchenne dystrophy: symptoms

The first symptom of the disease is the late start of learning to walk (around 18 months of age). Then you can notice enlarged calf muscles, i.e. pseudo-hypertrophy, which can be easily mistaken for strong muscles, and frequent rolling over when trying to take the first steps.

Clear muscle weakness appears around 2-3. year of the sick boy and covers the muscles of the torso, legs and arms in turn. Later, a duck-like gait is characteristic. The boy may also have a tendency to tiptoe, which involves pushing the belly forward and posture with an anterior curvature of the spine, the so-called Lordosis.

A patient with Duchenne dystrophy has difficulty getting up from the floor on his own - he has to use his arms to straighten his legs, which is referred to asGowers symptom . These symptoms appear in the first to three years of life of the boy and continue to develop until the boy reaches the age of 12. Then he has to use a wheelchair.

In addition, cardiac tissue is damaged, causing cardiomyopathy.

Only some boys with DMD have intellectual and learning difficulties. These difficulties are likely related to the rearrangement of dystrophin in the brain.

Duchenne dystrophy: diagnosis

Initial diagnosis can be made on the basis of a physical examination. In case of doubt, special tests are performed: electromyography or nerve conduction tests. The purpose of the tests is to measure the electrical activity of the muscles and stimulate the nerves to find out if the problem is in the muscles or the nerves.

DNA testing is performed for the final diagnosis, which in most cases provides information about the genetic abnormality responsible for DMD.

When the DNA tests are inconclusive, a muscle biopsy is usually performed (a small section of muscle tissue is taken to check for the protein dystrophin). If protein is absent, Duchenne Disease is the cause of muscle wasting.

Duchenne dystrophy: treatment

There is no cure for DMD. In some cases (e.g. when contracture occurs in the ankle joints), a surgical procedure may be performed, e.g. stabilizing the joint or balancing the tension of opposing muscles, in order to improve the patient.

In the advanced stage of the disease, when the limitation of movement is felt in the ankle joints, it is possible to use orthodontic splints at night. The ankle splints help keep the joint in its normal position and prevent contractures.

If you have problems with your heart, you can implant a pacemaker or use anti-arrhythmic drugs.

Duchenne dystrophy: rehabilitation

Regardless of the severity of the disease, rehabilitation is necessary to prevent further muscle wasting. Rehabilitation in Duchenne dystrophy consists of active and passive exercises.

Passive exercises should be started as early as possible. A set of exercises to prevent muscle contraction should be developed by a physiotherapist. These exercises should be performed daily and require the participation of parents / guardians of the sick boy.

Of all the active exercises, swimming (preferably in a heated pool) is the best.

This will be useful to you

Becker's Muscular Dystrophy (BMD)

Becker's muscular dystrophy (BMD) is a milder form of DMD. Symptoms of the disease usually appear in adolescence - often the sick person is not able to exercise in physical education lessons. The patient begins to walk with hesitant steps, tiptoeing or putting his stomach forward. CourseBecker's dystrophy is slower and more difficult to predict than in DMD. The sick person does not always need a wheelchair, as he is able to walk on crutches.

Patients with Duchenne muscular dystrophy and other rare diseases are not properly treated in Poland

Source: lifestyle.newseria.pl

Category:

Genetic diseases