What Is

Duchenne?

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What is DMD?

Duchenne muscular dystrophy, sometimes referred as Duchenne or DMD— is a genetic disorder that causes progressive muscle loss and weakness. It occurs as a result of gene mutations involved in the production of a protein called dystrophin.

Dystrophin helps keep muscle cells intact. Without it, progressive muscle weakness can cause mobility, growth, heart, and respiratory problems in children and shorten life expectancy. Duchenne is the most common form of Muscular Dystrophy. Although girls can be carriers and mildly affected, it’s much more common in boys.

Duchenne is caused by mutations (changes) within the dystrophin gene. A gene is made up of coding regions called exons, and the areas in between exons are called introns. Dystrophin has 79 exons, which makes it one of the largest genes in the body.

Duchenne is the most common and severe form of the disease. It usually starts when a child is between ages 2 and 5.

DMD Symptoms

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Muscle weakness beginning in the hips, pelvis, and legs

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Trouble learning to sit independently and walk

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Unsteady, waddling gait

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Walking on the toes or balls of the feet

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Clumsiness, falling often

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Trouble climbing stairs

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Difficulty rising from a lying or sitting position

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Difficulty standing

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Trouble breathing

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Larger-than-normal calves that are sometimes painful

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Learning disabilities or behavioral problems

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Curvature of the spine (scoliosis). This can cause one hip to rise higher than the other.

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Breathing problems that may eventually require the use of a ventilator

Is there a Cure?

There is currently no cure for Duchenne. However, there are several active trials and others in the pipeline.

There are currently 5 FDA approved treatments for DMD, EXONDYS 51, Vyondys 53, Viltepso 53, and Amondys 45. These are exon skipping drugs that only treat specific mutations.

Emflaza (Deflazacort)- Emflaza is a Corticosteroid that works by decreasing inflammation and reducing the activity of the immune system.