Muscular dystrophy is a condition in which muscles progressively get weaker and weaker. Duchenne muscular dystrophy (DMD) is the most common and also the most severe form of muscular dystrophy. There are approx 150 boys with DMD in Ireland with diagnosis usually taking place between the ages of three and five years.
Imagine your child has just been diagnosed with MND. Here are the devastating facts about the condition…
- Mostly affects boys (rarely girls).
- Often brothers or male relatives have same problem.
- First signs appear around ages 3 to 5: the child may seem awkward or clumsy, or he begins to walk ‘tiptoe’ because he cannot put his feet flat. Runs strangely. Falls often.
- Problem gets steadily worse over the next several years.
- Muscle weakness first affects feet, fronts of thighs, hips, belly, shoulders, and elbows. Later, it affects hands, face, and neck muscles.
- Most children become unable to walk by age 10.
- May develop a severe curve of the spine.
- Heart and breathing muscles also get weak. Child usually dies before age 20 from heart failure or pneumonia.
About 66 per cent of all Duchenne cases are inherited from the boys’ mother. A third of cases diagnosed are not inherited but caused by environmental factors. The disorder is caused by an error in the dystrophin gene, located on the X chromosome. This gene controls a protein, which is an essential element of muscle tissue. Without it, muscle cells break down and die.
In the UK, the life expectancy for those with DMD is between 27 and 28 thanks to new developments such as night ventilation treatments. In Ireland the life expectancy is somewhere between the late teens and early 20s. There is currently no cure for DMD.
The HEALTHplus supplement of The Irish Times recently featured an article Living in hope for our boys to highlight the problems faced by Duchenne sufferers in Ireland. No research into the condition is currently happening in this country. The best hope for children with DMD, lies in participating in UK clinical trials but this government has refused funding saying that it cannot find a way around the regulations governing it. Our government’s attitude is like a slap in the face to the parents of the 150 Irish children suffering with DMD, particularly since no such trials exist in Ireland. Not to be defeated, a group of six families have got together to set up a patient organisation called Duchenne Ireland with the aim of funding translational research into this rare disease, in an effort to drive forward effective therapies for their children.
Time is not on their side.
Source: HEALTHplus @ The Irish Times; Duchenne Ireland and Disability Information (DINF) Resources.