"Diagnosis incurable muscle disease Duchenne often leaves much to be '

Duchenne muscular dystrophy is a fatal neuromuscular disease. Netherlands has about 600 patients suffering from it. They are almost exclusively boys and men.

The average life span has increased considerably in recent years: in 1990 people with Duchenne were on average 19 years, now they are on average between 30 and 35 years. "That's an estimate, there are, unfortunately, guys who have been dying from the disease at an earlier age," says Erik Nothing, pediatric neurologist at the LUMC.

no drug

Duchenne diagnosis is often asked about the fifth year. Around 14 years, almost all patients with the disease completely dependent on a wheelchair. From 18 years most can not do without respiratory support.

The lungs are becoming weaker, the heart also. Thereto death Duchenne patients often. "In most cases, the heart stops because the muscle strength is reduced too much. In other cases, the death of patients with pneumonia", tell nothing.

"There is no cure for Duchenne," said nothing. "We give particular prednisone, which works directly on the muscles and slows down the process."

Diagnosis should rather

This year, the foundation asks the Duchenne Parent Project (DPP) with World Duchenne Awareness Day so attention for early diagnosis. "That is often given too late," said Elizabeth Vroom, director of DPP."Parents are then initially even reassured that their child what is lagging behind in development. The diagnosis is often only when children attend are older than four years." That's too late, says Vroom.

symptoms

Where do you recognize Duchenne then? "The very first symptoms that parents may notice is that the child very often (to) fall," said pediatric neurologist nothing. "At some later age, you can see that the child bend it a different way, with hands on knees to push himself upright."

Another symptom may be that the child has big calves that look muscular. "But it's not muscle," said nothing.

Gemini with Duchenne

Esther has a twin Milan and Ilya. They are eeneiig and both have Duchenne muscular dystrophy. "We noticed, however, that they could walk quite late (when they were 2,5) and what they were behind in their language development was not until she was almost four years old, we were told the diagnosis in the hospital:.. That was Duchenne such a huge shock, I'm still not over it. "

By Editorial Edition NL Photo: