Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a rare condition defined by worsening muscle weakness and damage.

Overview
Signs & Symptoms
What To Expect

What Is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is the most common inherited neuromuscular disorder that affects all races and ethnicities. Affecting only males, it occurs in 1/3,600 live-born infant boys. While some affected newborns may have some mild hypotonia (decreased muscle tone or “floppiness”), other symptoms are rarely present at birth or in early infancy. Early gross motor developmental milestones, including rolling over, sitting, and standing, are usually met at the normal ages, or slightly later than normal.

Those affected usually maintain the ability to be able to use their hands to hold and use eating and writing utensils. All children with DMD will have some degree of intellectual impairment, with most having only learning disabilities.

What Are the Signs and Symptoms?

The first sign of muscle weakness is often poor head control. Many children begin walking at the appropriate age, around 12 months. However, weakness of hip muscles may start as early as the 2nd year of life, causing affected toddlers to stand with their lower back arched forward. Between three and five years of age, affected children become unable to stand up from squatting position without pushing through their arms (Gower’s sign), and begin to walk with a waddle (Trendelenburg gait). Children may lose the ability to walk as early as 7 years of age. Most will become confined to a wheelchair by the age of 10-12 years. 

Characteristic Features of Duchenne Muscular Dystrophy

  • Enlarged calf muscles
  • Shrinking of thigh muscles
  • Progressive (worsening) muscle weakness
  • Intellectual impairment

New Future for Kids with DMD

After being diagnosed with DMD, Easton and Connor participated in a novel gene therapy developed and tested at Nationwide Children's Hospital. Not knowing the outcome, not knowing what the future would hold they ultimately paved a path for other kids with DMD.

Learn More About the Center for Gene Therapy ›

What To Expect

Muscle weakness and breakdown continues to progress throughout life, causing development of many complicating disorders and the common signs and symptoms of the disease. Calf muscles commonly become enlarged (psuedohypertrophy), and thigh muscles become thin. The tongue and forearm muscles may also become enlarged. Stiffening of the joints (contractures) may occur. Many children will develop severe spinal curvature (scoliosis), particularly after becoming confined to a wheelchair. Weakness in chest and throat muscles leads to difficulty coughing and swallowing, causing frequent lung infections. Breakdown of the heart muscle (cardiomyopathy) is typical. With a life expectancy of about 18 years of age, heart and respiratory complications are most commonly the cause of death in patients with DMD.

You Might Also Be Interested In

Blog

What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a disease that affects mostly boys, causes progressive muscle weakness and gradually steals boys’ ability to walk. Who is affected? Duchenne muscular dystrophy (DMD) is an X-linked disease.

Blog

Duchenne Muscular Dystrophy: Advancements Research in the Pipeline

Researchers in the Center for Gene Therapy at Nationwide Children’s are leading the way in developing new treatments for Duchenne Muscular Dystrophy by participating in studies happening around the world. They also lead studies at Nationwide Children’s that are not happening anywhere else.

Dr. Mendell is seated, in conversation with the young patient
News

From Bench to Bedside: Patient with Duchenne Muscular Dystrophy Receives First Dose of Gene Therapy Developed at Nationwide Children’s Hospital

In a landmark moment for the Abigail Wexner Research Institute at Nationwide Children’s, a 5-year-old from Bellefontaine, Ohio, received the first dose of a recently approved gene therapy for Duchenne muscular dystrophy at Nationwide Children’s Hospital, where the therapy was invented and initially tested.