You’ve heard the expression, “What’s in a name?” How about, “What’s in a number?” September 7 is World Duchenne Awareness Day. It occurs on that day every year because the 7th day of the 9th month represents the 79 exons of the dystrophin gene.
According to the National Institutes of Health, Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene, the largest in the human genome. It encompasses 2.6 million base pairs of DNA and containing 79 exons.
DMD affects approximately one in 3,500 male children, and in the majority of cases, these kids lack the dystrophin protein. Heartbreakingly, it is the most common fatal genetic disease and causes muscle wasting.
Early diagnosis is critical to getting early treatment, but would a new parent know what to look for? Until screening for Duchenne muscular dystrophy becomes commonplace, parents and guardians are the child’s best chance of getting that early diagnosis. And on the bright side, new treatments have come to market, and more drug therapies are currently in the pharma pipeline.
Here are some of the symptoms that can be readily observed and brought to the attention of healthcare providers:
- Difficulty learning to crawl as an infant
- Toddlers with a “waddle-like” gate
- Very large calf muscles
- Trouble climbing (stairs, playground equipment, etc.)
- Difficulty getting up off the floor
- Difficulty running
- Delayed speech development
If you suspect your child may have DMD, first, talk to his or her healthcare provider and request genetic testing. Then, get in touch with the Muscular Dystrophy Association (MDA). This is a fantastic source of information and support for families of DMD kids.
