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Duchenne Muscular Dystrophy Symptoms and Diagnosis

The symptoms of Duchenne muscular dystrophy usually appear in early childhood, as the muscles begin to weaken. Children with Duchenne muscular dystrophy usually have difficulty going up stairs and jumping. You may also notice symptoms that include the child walking on their tiptoes, or stumbling. Another important symptom of Duchenne muscular dystrophy is a child having difficulty getting up from a lying or sitting position.

Because the Duchenne muscular dystrophy gene is found on the X-chromosome, it primarily affects boys and it can occur in all races and cultures.

What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy (DMD) is a progressive genetic disorder that gradually weakens the body's muscles.

There are different types of muscular dystrophy: Duchenne muscular dystrophy is both the most common childhood form and one of the most severe form of the disease, affecting 1 in every 5,000 boys.

Most kids with Duchenne are using a wheelchair by the time they are 12.

What Causes Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is caused by a mutation in the gene that encodes for dystrophin (a structural protein found in small amounts in normal muscle but absent in Duchenne muscular dystrophy).  Because dystrophin is missing, the muscle cells are damaged. Muscle weakness leads to issues with the heart and lungs, and young men with Duchenne generally live into their mid twenties.

Duchenne muscular dystrophy can be passed from mother to child, but in 35 percent of cases, it occurs because of a random spontaneous mutation.

How is Duchenne Muscular Dystrophy Diagnosed?

Doctors diagnose Duchenne muscular dystrophy by measuring a muscle enzyme called CK. Boys with Duchenne have very high levels of this enzyme, which means the muscle cells are breaking down.

Genetic testing, which is the principal way to arrive at the diagnosis for Duchenne muscular dystrophy, will show a change in the dystrophin gene.  Muscle biopsy is not routinely needed now but will show a lack of dystrophin in the muscle cells.

Duchenne Muscular Dystrophy Treatment

Although there is no cure available right now, scientists have made great progress on many fronts. Doctors are working on improving muscle and joint function, and slowing muscle deterioration.


Click here for more information on the research projects currently funded by Jesse’s Journey.