“sit My son next to the football pitch and looks full of desire on the field, where his teammates chase the Ball. He would shoot so much race, dribble and score goals! But his disease makes it impossible!“ so the young mother, Anna B.
her son suffers from the life-threatening genetic disease Duchenne muscular dystrophy (DMD) leads to progressive degradation of the muscles. Since once degraded muscles can’t be repaired, early detection is very important. The only way you can get to the muscle breakdown before, and slow the progression of the disease.
The disease occurs in roughly one in every 3,600 to 6,000 children, where in most cases boys are affected. The affected children of a functioning muscle is missing a protein called “Dystrophin”. Without this protein, it is only to a reduction in the movement of muscles, and later from the respiratory and cardiac muscles. The muscle weakness increases over time and spreads throughout the body.
“It was initially a shock” PTC
“something’s wrong, we had suspected for a long time. But to know that something Serious, namely, Duchenne muscular dystrophy, is behind the delay in the Speaking and in the Running of our son, was a shock,” Anna B. “in the Meantime, however, we are glad that we received the diagnosis and all available treatment able to exploit the measures. The diagnosis was made early, so that you can still do a lot to make our son’s life as carefree as possible.“
Already in the toddler age, the first signs of the disease may occur. In the following development delays, you should therefore (especially as the mother of a boy) your house or pediatrician contact:
Until the end of the second year of life:
- your child cannot hold the head yourself with 3 months
- No free Seats and 9 months ago
- No active Crawl with 9 months
- draw an active High in the Stand for 12 months
- No Stroll to furniture/wall at 15 months
- abnormalities in Speaking, Learning, Behavior in comparison to peers
- Flaccid, uncoordinated, and energy loser overall impression
- can your child still is not free to go with 18 months
From the third to the fifth years:
- your child is often the way
- It has a Jump in difficulty at the races/
- It has difficulty when climbing stairs
- It has thickened calves
- your child> is on the tips of your toes
- It has a “waddling” gait
- It has less stamina than their peers
<li It pushes/pulls when standing Up at own body up
your doctor will you can in most cases be calm that the symptoms have nothing to do with the DMD to. If in doubt, bring a simple blood test for more clarity. In the case of the muscle enzyme creatine kinase (CK) is determined.
If the CK is elevated Test is “significantly” (> 1,000 U/l), your child for further investigation to a specialist for nerve and muscle in childhood and adolescence (the so – called neuro – pediatricians) should be forwarded, should diseases. This is true, but really only in the fewest cases.
The loss of ambulation in DMD a key event: it is possible to get the ability to walk for as long as possible, this often is the progression of the disease can be delayed. A cure of DMD is not yet possible, however, can be alleviated by the timely start of appropriate measures, symptoms, complications reduced, and the quality of life be improved. Therefore, the early detection of the disease is so important.
supporters , Austrian muscle research the scene of the crime Commissioner Harald Krassnitzer turned a Spot to make on DMD’s attention.
the scene of the crime Commissioner Harald Krassnitzer turned a Spot to make on DMD’s attention. Photo: Austrian muscle research
The Austrian scene of the crime Commissioner Harald Krassnitzer has been involved for a few years – together with the Austrian muscle research, especially for children affected by muscle diseases such as DMD. Just like the investigation in a criminal case, the investigation of new therapies for still incurable muscle disease meticulously, researchers are suspicions, hypotheses are checked, setbacks are inserted and each track is followed – always in the hope that it leads to the goal.
Harald Krassnitzer used his fame to create awareness for muscle diseases and to show the high need for research in this area. Together with a concerned young he made a donation spot for the Austrian muscle research.
Similarly, former professional football player and honorary captain of the German national football team, Uwe Seeler, for the children with DMD strong power: “to Me was given the happiness that I was able to build thanks to a healthy body, a football career. Lucky to be healthy, unfortunately, has not been laid to every man in the cradle. I’m aware of that and that is why I am committed to muscle sick.“
more information about Duchenne muscular dystrophy
With the campaign, “Afterwards, instead of full of it?” to PTC Therapeutics raise awareness for DMD in Public. The Website www.hinterherstattvolldabei.ch provides Interested parties with concise information about the early detection of this rare disease for better chances of the small patients. Similarly, there are further information on www.duchenneunddu.ch.
