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Let´s talk about Duchenne, what characterizes this dystrophy?

Informative flier with the text “September 7, World Duchenne Awareness Day . Let´s talk about Duchenne, what characterizes this dystrophy? By Lelio Sánchez, read it on www.comparlante.com". Together with a photo of a smiling boy who is a wheelchair user. Below, the logo of Fundación Comparlante

Duchenne muscular dystrophy is an inherited disorder which is caused by a defective gene. It generates proteins with important functions in muscle tissues, which when they cannot be properly produced, and so they cause dystrophy.

The World Duchenne Awareness Day is celebrated on September 7 with the aim of informing the community, highlighting the importance of an early detection and providing advice to families.

According to the Duchenne Parent Project España, Duchenne Muscular Dystrophy (DMD) is caused by DMD gene mutations. It gives instructions to make a protein called dystrophin, which is mainly found in the heart and muscles in the body, in which it helps to stabilize and protect muscle fibers.

Symptoms onset is in children from 1 to 6 years old. There is a constant and progressive loss of skeletal muscle strength between 6 and 11 years old; thus, orthopedic aids may be needed to walk. Most of the children need to use a wheelchair to move at 12 or 13 years old.

There is still no cure for Duchenne Muscular Dystrophy, but research to find an effective treatment is ongoing. The current treatment is aimed at controlling symptoms to improve life quality.

Frequently, people with Duchenne Muscular Dystrophy have a dilated cardiomyopathy (the heart is bigger and weaker). The cardiomyopathy may be treated with medicine, and, in severe cases, with a heart transplant. Some assistive devices may be needed to address breathing difficulty, especially at night.

The Genetic and Rare Diseases (GARD) Information Center recommends that people suffering this type of dystrophy should be regularly physically active, since sedentary lifestyle (such as bedrest) may worsen the muscle disorder. Physical therapy may be useful to keep the muscle strength and function. Orthopedic aids (such as canes and wheelchairs) may assist people with DMD on activities related to their mobility and self-care.

At Fundación Comparlante, we seek to raise awareness and make visible this rare disorder affecting 1 of every 5000 male newborns.

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