DUCHENNE MUSCULAR DYSTROPHY
The most common fatal pediatric disorder.The Duchenne gene is found on the X-chromosome and therefore affects mostly males; however in rare cases it affects females. It affects approximately 1 in every 3,500 live male births. There are approximately 15,000 patients diagnosed with Duchenne alive today in the United States. Duchenne has no cure.
Duchenne is a progressive neuromuscular disorder that causes a loss of motor, pulmonary, and cardiac function, and ultimately, premature death. It is caused by a mutation in the gene that encodes for dystrophin, a lubricating protein supports muscle fiber strength. When dystrophin is missing in the body is muscle cells are easily damaged, which causes progressive muscle weakness in the entire body.
Children with Duchenne are born seemingly healthy and decline over time, typically losing their ability to walk around the age of 12 and succumbing to the disease in their early to mid-twenties.
Duchenne can be passed from parent to child, but approximately 35% of cases occur because of a random spontaneous mutation. In other words, it can affect anyone.
Two therapies for Duchenne are approved for commercial use in the United States.
One treatment is Emflaza (deflazacort), a corticosteroid similar to prednisone used for decades to reduce inflammation in the muscle and slow the progression of the disease.
The other treatment is Exondys 51, an antisense oligonucleotide indicated for the treatment of Duchenne in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. Exondys 51 works by producing a small amount of dystrophin, the protein patients with Duchenne are missing.
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