This disease can be behind developmental delays
If children are developing more slowly than their peers, this is usually not a cause for concern. In rare cases, however, the hereditary disease Duchenne muscular dystrophy can also be behind the developmental delays. We explain to you which signs of your child you should ask a doctor for and why early detection is so important.
“My son sits next to the soccer field and looks longingly at the field where his teammates are chasing after the ball. He would also love to run, dribble and score goals! But his illness makes that impossible!” says the young mother Anna B.
Her son suffers from the life-threatening hereditary disease Duchenne muscular dystrophy (DMD), which leads to progressive muscle breakdown. Since muscles that have been broken down cannot be repaired again, early detection is very important. This is the only way to prevent muscle loss and slow down the progression of the disease.
The hereditary disease occurs in about one in 3,600 to 6,000 children, with boys being affected in the vast majority of cases. The affected children lack a functional muscle protein called “dystrophin”. Without this protein, the movement muscles first break down, and later the respiratory and heart muscles too. Muscle weakness increases over time and spreads throughout the body.
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Toggle“It was a shock at first”
“We had long suspected that something was wrong. But knowing that something serious, namely Duchenne muscular dystrophy, was behind our son’s delay in speaking and walking was a shock at first,” says Anna B. “Now, however, we are very happy that we received the diagnosis and exhaust all available treatments. The diagnosis was made relatively early,
so there is still a lot that can be done to make our son’s life as easy as possible.”
The first signs of the disease can appear as early as infancy. In the case of the following developmental delays, you should therefore (especially as the mother of a boy) contact your family doctor or pediatrician:
By the end of the second year:
- Your child cannot hold its head up by itself at 3 months
- No free sitting at 9 months
- No active crawling at 9 months
- No active pulling up to standing at 12 months
- No hanging along on furniture/wall at 15 months
- Abnormalities in speaking, learning, behavior compared to peers
- Limp, uncoordinated and lacking in energy overall impression
- Your child cannot walk freely at 18 months
From the age of three to five:
- Your child falls often
- It has difficulty running/jumping
- It has difficulty climbing stairs
- It has thick calves
- Your child walks on tiptoe
- It has a “waddling” gait
- It has less stamina than its peers
- It pushes/pulls itself up on its own body when standing up
In most cases, your doctor will be able to reassure you that the signs are unrelated to DMD. If there are any doubts, a simple blood test will provide further clarity. In this test, the muscle enzyme creatine kinase (CK) is determined.
If the CK test is “significantly elevated” (> 1,000 U/l), your child should be referred to a specialist in nerve and muscle disorders in children and adolescents (the so-called neuropediatrician) for further clarification. But that really only applies in very few cases.
Loss of the ability to walk is a key event in DMD: maintaining the ability to walk for as long as possible can often delay the progression of the disease. A cure for DMD has not yet been possible, but starting appropriate measures in good time can alleviate symptoms, reduce complications and improve quality of life. This is why early detection of the disease is so important.
Celebrity Supporters
The Austrian crime scene inspector Harald Krassnitzer has been involved for several years – together with the Austrian muscle research – especially for children who are affected by muscle diseases such as DMD. Just like the investigations into a criminal case, the research into new therapies for muscle diseases that are still incurable is meticulously carried out. Scientists investigate suspicions, theses are checked, setbacks are accepted and every lead is followed – always in the hope that it will lead to the goal.
Harald Krassnitzer used his fame to create awareness of muscle diseases and to show the great need for research in this area. Together with an affected boy, he shot a fundraising spot for Austrian muscle research.
The former professional soccer player and honorary captain of the German national soccer team, Uwe Seeler, is also wholeheartedly committed to children with DMD: “I was lucky enough to be able to build up a soccer career thanks to a healthy body. Unfortunately, not everyone was born lucky to be healthy. I’m aware of that and that’s why I’m committed to muscle disorders.”