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Sep 7, 2021
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5 facts parents of boys should know about Duchenne disease

Duchenne disease or Duchenne muscular dystrophy manifests itself at an early age and is characterized by muscle weakness, which constantly progresses and by adolescence makes it impossible to move independently. The disease is diagnosed in approximately 1 in 3.5 thousand boys, in girls it is extremely rare and manifests itself in milder symptoms.

An expectant mother can find out about the carriage of a mutant gene through analysis

Duchenne disease is caused by a mutation in the dystrophin gene located on the X chromosome. In 70% of cases, the mutated gene is passed only from carrier mothers. If a woman is planning a pregnancy, she can find out about the carrier of the gene with the help of a special test, which can be donated in private laboratories. In some countries, such as Israel, this test is part of the public health system and is free of charge.

But it is important to remember that analysis is not a guarantee that a child with Duchenne disease will not be born in a family. In 30% of cases, the disease is the result of a new gene change in the fetus (De Novo).

Walking on tiptoe, getting up hard – the first symptoms of Duchenne disease

The first “red flags” appear already at the age of 2-3 years, which most parents do not notice, or write them off by age – for example, when a child is clumsy in comparison with peers or often falls. Moreover, pediatricians who have never experienced Duchenne muscular dystrophy may not pay attention to these symptoms and make the wrong diagnosis.

  • gait changes, the boy begins to walk on tiptoe;
  • there is a deflection in the lower back and the abdomen strongly “sticks out”;
  • the child increasingly falls and complains of constant fatigue;
  • there is a delay in speech development;
  • the calf muscles increase;
  • it is difficult for him to get up from the floor.

This is how pediatrician Sergei Butriy describes the typical symptoms of an early stage of the disease:

“His mother asks him to lie down and get up – he does it in a very strange manner, first leaning excessively on the floor, then completely on his own legs.”

According to the expert, raising the awareness of doctors and parents about this disease can speed up the diagnosis of such children, which means that they can speed up their access to specialized specialists and improve the prognosis of the disease.

Butriy advises parents:

“If suspicions do not leave you, show the child to the pediatrician with a direct question:” It cannot be Duchenne dystrophy, can it? “

This disease is often confused with hepatitis.

If there are doubts about the boy’s health, the doctor should prescribe a blood test for the activity of creatine phosphokinase (CPK). It is an enzyme found in skeletal muscle that is a marker of muscle breakdown. With muscular dystrophies, including Becker’s disease, it is excreted in enormous quantities – several tens of thousands of units at a rate of a hundred.

But again, due to low awareness of Duchenne’s disease, doctors mistakenly diagnose hepatitis in these boys. The fact is that with this disease, the levels of transaminases in the blood increase, which also occurs with hepatitis. But with Duchenne dystrophy, these enzymes are of muscle origin, not liver.

An accurate diagnosis can only be made with the help of a specialized genetic analysis, which the doctor should refer to. Free diagnostics is carried out at the Academician N.P. Bochkova “with CPK values ​​of more than 2000 U / l.

To refer a patient for diagnosis, a specialist must call the doctor’s hotline at 8-800-100-17-60 and register the child in the free genotyping program.

“Traditional” methods of treatment can aggravate the disease

If the diagnosis is confirmed, the doctor will prescribe glucocorticosteroids – today this is the gold standard of treatment for slowing the progression of the disease. Also shown is special physiotherapy exercises and complex rehabilitation at different ages. In 2020, the first drug for the treatment of Duchenne muscular dystrophy, Ataluren, was registered in Russia, but so far little is known about its effectiveness.

The creators of the educational project Red Balloons for parents of children with Duchenne disease warn about the dangers of various methods of “treatment” from the Internet, for which desperate moms and dads grab at straws. Unfortunately, not only are they not beneficial, but they can even accelerate the progression of the disease.

  • exert excessive physical activity (engage in aggressive sports, climb and descend steep stairs, jump on trampolines);
  • soar your feet, wash yourself with very hot water, go to saunas and baths;
  • do massage without first consulting a doctor;
  • resort to methods of “treatment” from the Internet: stem cells, leeches and wraps do not help.

The disease cannot be cured, but life can be prolonged

The life expectancy of patients with this disease is very short – as a rule, death occurs due to disorders of the heart or respiratory system at the age of 12-25 years. But thanks to modern methods of rehabilitation, the introduction of respiratory support, such people have more and more chances to live longer.

This year’s theme for World Awareness Day for Duchenne Muscular Dystrophy has been adulthood. Doctors and patients urge not to limit their perspectives “life to 20 years”, but to improve the quality of those young people who decided to be independent, study, work and discover the world.


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