What is Duchenne Muscular Dystrophy ?

Scientific

Duchenne muscular dystrophy (DMD) is a severe recessive x-linked form of muscular dystrophy that is characterized by rapid progession of muscle degeneration, eventually leading to loss in ambulation, paralysis, and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. In general, males are only afflicted, though females can be carriers. The disorder is caused by a mutation in the gene DMD, located in humans on the X chromosome. The DMD gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane.

In Plain English... 

Duchenne is the most common fatal genetic disorder diagnosed during early childhood, affecting approximately 1 out of every 3,500 boys and 20,000 babies born each year. Duchenne causes loss of muscle function and independence. There is currently no cure for Duchenne, but much research is currently underway to find an interim therapy that will help delay the progression of the disease until a cure is found.

66% of all duchenne cases are inherited from the boys mother. 33% of Duchene cases diagnosed are not inherited but cause by environmental factors.  This means that any boy can be diagnosed with Duchenne. Boys are usually only diagnosed between the ages of 3 and 5 years of age.

Current research is working on replacing the missing dystrophin in children with Duchenne. Clinical trials are already underway, but we need more direct funding to this research to ensure it progresses faster than the disease.

Duchenne Ireland is Ireland's only nonprofit organization focused entirely on Duchenne and is proud to lead the Duchenne community in Ireland. Duchenne Ireland is striving to improve the treatment, quality of life, and long-term outlook for all individuals affected by Duchenne Muscular Dystrophy through direct translational research funding.

Time is not on these kids side - Lets make sure you are. We are an "Action" charity. In less than three months since conception, we have a research grant call in place and are moving forward to fund scientists who are looking for therapies for Duchenne.

You can be guaranteed that 100% of all money raised will go directly to research into this fatal disease. See our research section for detail on this ongoing work.

Please help save Irish kids lives by supporting us today, or join our group of Advocates spreading the word about Duchenne and fundraising for this vital research to prolong the lives of these children.

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The opinions expressed herein are individual bloggers own personal opinions and do not represent Duchenne Ireland's view in anyway.

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