What is 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.
How muscular dystrophy affects the body
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)
What causes muscular dystrophy?
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.
Testing for muscular dystrophy
Diagnosing muscular dystrophy can take time, since many nerve and muscle conditions share similar symptoms. Your provider will review your medical history and perform a detailed neuromuscular exam to better understand your symptoms and how your muscles are working. Genetic blood tests can confirm or rule out a diagnosis of muscular dystrophy. Neurodiagnostic tests provide a closer look at how your nerves and muscles communicate and help identify the specific type of condition you have.
Managing muscular dystrophy
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 and occupational therapy to support strength and mobility
- Mobility aids, like braces or wheelchairs
- Monitoring and treatment for heart, lung, or swallowing concerns