Muscular Dystrophies

Muscular dystrophy is a genetic disease that causes muscles to become weak and break down over time. It can lead to heart problems, scoliosis and obesity. It most often affects boys, and its onset is between three and six years of age.

Though there is not yet any treatment for the disease, our clinic excels at helping patients and their families manage the disease using a combination of counseling, physical therapy, and braces and splints. Sometimes, if breathing is an issue, respiration assistance is necessary. Surgery can also help treat scoliosis or other malformations that occur as a result of the disease.

Symptoms of muscular dystrophy include clumsy movement, frequent trips and falls, difficult climbing stairs, an inability to jump or hop, leg pain, facial weakness, shoulder or arm weakness, and an inability to close one’s eyes or whistle.

Our clinic has access to all the necessary diagnostic tools used to determine if your child has muscular dystrophy. These include blood tests, muscle biopsies, and tests such as electromyograms and electrocardiograms, which measure the electrical activity in the muscles and heart, respectively.

Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is one of the most common types of muscular dystrophy, and it usually affects boys starting at about three to four years of age. It is a genetic disease that leads to a lack of a protein called dystrophin, which causes muscle cells to become fragile and easily damaged.

DMD is often suspected because of a telltale clinical characteristic called Gowers’ sign, in which children walk their hands up their legs to brace themselves as they rise to a standing position. Children with DMD also often have large calves due to fatty deposits replacing the muscle in their legs. 

The team at the Stanford Children’s Health Pediatric Neuromuscular Diseases Clinic works together to develop the best possible care plan for a child with Duchenne muscular dystrophy. Services include pulmonology, cardiologyendocrinology and nutrition counseling.

Fortunately, the long-term outlook of children with DMD has improved thanks to advances in cardiac and respiratory care. Early diagnosis is key, so if your child is showing the signs of DMD, please contact us or another healthcare provider right away.

Myotonic muscular dystrophy

Myotonic muscular dystrophy is one of the most common forms of muscular dystrophy. It is a complex disease that can affect many different functions and systems, including the heart, skeleton, eyes, speech, swallowing and more. It most often affects adults and can be very serious when it affects children.

There are two types of myotonic muscular dystrophy, but only one type occurs in children. If this type occurs congenitally, or at birth, it can often be life-threatening and requires constant medical supervision.