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What Are the Symptoms of Duchenne Muscular Dystrophy?

DMD affects 1 in 5,000 boys, often first causing symptoms between ages 2 and 5. It affects the hips and thighs before spreading to the arms and the rest of the body.

 First signs and symptoms of DMD may include: 

• Trouble with running, jumping, and climbing stairs 
• Using hands to get up from sitting or squatting. This is a movement called Gower sign. 
• Enlarged calves 
• Waddling 
• Leg pain 
• Learning problems 

As the disease gets worse, DMD can lead to: 

• Broken bones from falling 
• Greater need for a wheelchair 
• Curving of the spine (scoliosis) 
• Stiff joints that can’t move (contractures) 
• Shortness of breath or other breathing problems 
• Irregular heartbeat or other heart problems

What Causes Duchenne Muscular Dystrophy?

DMD is caused by mutations in the dystrophin gene, which helps keep muscle fibers stable. The condition generally affects boys because the dystrophin gene is on the X chromosome. The mutated gene cause your body to make very little or no dystrophin.

If the gene can still make some dystrophin, the condition has milder symptoms. This is called Becker muscular dystrophy. People with DMD generally don’t have any dystrophin at all.