What is Duchenne muscular dystrophy?
Muscular dystrophy (MD) is an umbrella term for more than 30 genetic diseases that cause progressive weakness and degeneration of the muscles used in movement.
Duchenne muscular dystrophy (DMD), the most common form of MD, accounting for about 50 percent of muscular dystrophy cases is a rare disease; occurring in one out of 3,500 births in the United States. DMD results from an absence of the muscle protein dystrophin,which helps muscles stay strong.
How does Duchenne affect children?
Symptoms of DMD usually begin to show up around the time a toddler learns to walk. A child with DMD may have a waddling gait and frequently falls, especially when running. He may have difficulty getting up from sitting position or from lying down. Postural changes may occur. Progressive muscle weakness can affect other organ systems and lead to difficulty breathing or heart failure.
Complications of DMD may include difficulty breathing, respiratory infections, swallowing problems, heart problems, bone thinning and scoliosis (curving of the spine). Some degree of cognitive and behavioral impairment may occur. Children with Duchenne MD can lose the ability to walk by early adolescence.
Is muscular dystrophy inherited?
Although all muscular dystrophy is genetic, about one third of the families of DMD patients have no prior history of the disease. This is because DMD may occur as a result of a spontaneous genetic mutation. Genetic counselors at Stony Brook Children’s Hospital can offer detailed information about genetic testing and inheritability.
Why does DMD affect mostly boys?
DMD is caused by a mutation on the X, or male sex chromosome, so it mostly affects boys. However, girls and women who carry the defective gene may show some milder symptoms.
Do all forms of muscular dystrophy begin in childhood?
Some forms of MD appear in infancy or childhood, while others may not appear until middle age or later. Each of the dystrophies causes progressive skeletal muscle deterioration and weakness, but severity and life expectancy varies.
Is Duchenne the only type of muscular dystrophy that Stony Brook Children’s treats?
We diagnose, treat and manage all forms of muscular dystrophy and neuromuscular disorders in children, with a special emphasis on Duchenne. The launch of our Center is supported in part by Hope for Javier, a non-profit organization whose mission is to change the predicted outcome for all boys diagnosed with Duchenne muscular dystrophy, by funding research, advocacy and ultimately transforming the way healthcare is delivered to medically underserved boys.