Muscular dystrophy

Muscular dystrophy is a group of inherited conditions that cause muscles to become weaker over time. This weakness happens because the muscles slowly break down and don't repair themselves as they should. Muscles that control movement, like those used for walking, lifting, and breathing, are most often affected. Because there are many different types, the way the disease affects the body and how fast it progresses is different for everyone.

At Penn Medicine, our neuromuscular disorder care specialists practice within one of the nation’s oldest neuromuscular programs. Adults with muscular dystrophy receive care through our Muscular Dystrophy Association (MDA) Clinic, where education and long-term planning are a central focus. We also partner closely with Children’s Hospital of Philadelphia (CHOP). For individuals diagnosed in childhood, this helps support a smoother transition to adult specialists.

Symptoms of muscular dystrophy depend on the specific type you have and which muscles are affected. Some forms, like Duchenne and Becker muscular dystrophy, often begin in childhood, while others develop during adulthood. In many cases, muscle weakness slowly worsens over time.

Other common symptoms may include:

• Difficulty walking, running, or climbing stairs
• Muscle shrinking, stiffness, or tight muscles and joints
• Fatigue and muscle pain or cramping
• Trouble swallowing or breathing
• Heart-related problems like an irregular heartbeat
• Curvature of the spine (scoliosis)

Muscular dystrophy is caused by changes, called mutations, in genes that help keep muscles healthy and strong. These genes normally make proteins that protect muscle fibers. When a gene doesn’t work as it should, muscles become damaged more easily and weaken over time.

Each type of muscular dystrophy is linked to a specific gene change. Most forms are inherited, meaning the gene change is passed down from a parent. This is why muscular dystrophy can affect multiple members of the same family, even though symptoms may differ.

There isn’t a cure for muscular dystrophy yet, but there are treatments that can help slow disease progression and manage symptoms.

Care may include:

• Medications to help manage symptoms or complications
• Physical therapy and occupational therapy to support strength and mobility
• Mobility aids, like braces or wheelchairs
• Monitoring and treatment for heart, lung, or swallowing concerns