February 13 to February 19 is Duchenne Muscular Dystrophy Awareness Week, a prime time to highlight this little-known progressive, muscle-weakening disease. It is a genetic disease that prevents the body from making sufficient quantities of a protein called dystrophin. Muscles need this protein to protect them as they contract and relax. It is a rare disorder, affecting approximately 1 in 3,500 to 5,000 male births worldwide.
What you should know:
- Duchenne is one of more than 30 forms of muscular dystrophy.
- Girls are rarely affected, approximately 1 in 50 million, but may be carriers of the gene.
- The first signs of Duchenne are often noticed around the age of 2 or 3. The child may be slower to sit, stand, walk, and climb stairs. Most are unable to run and jump properly due to weakness in the body’s core muscles.
- The condition first affects the muscles of the hips, pelvic area, thighs and shoulders, and later the muscles in the arms, legs, and trunk. The calves often are enlarged. By the early teens, the heart and respiratory muscles also are affected.
- Children with Duchenne are more likely to have attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders, and learning disorders.
- Thanks to new interventions, life expectancy is increasing from the late teens to well into adulthood. Some men with Duchene live into their 40s and 50s.
- Researchers are pursuing exciting new strategies to treat this condition.
What you can do:
- Prior to planning a family, genetic testing is advised if a family member has Duchenne or another muscle-wasting condition that may have been misdiagnosed or undiagnosed.
- Parents should seek medical advice if a child shows signs of muscle weakness, particularly when sitting, standing, and/or walking.
- Teachers and caregivers should be aware of the signs of Duchenne so they can alert the parents. A Teachers Guide to Neuromuscular Disorders is a good resource.
- Family, friends, and neighbors can include the child in all appropriate activities so he will not become socially isolated.
For more information, this website is a valuable resource.