Information

We are here to help you learn about MD and its affects on the community. Here you will find out more about MD and learn about the implications of the disease.

What Is MD?

MD stands for muscular dystrophy. MD is a group of genetic diseases that cause progressive weakness and degeneration of skeletal muscles. The disease varies in its age of onset, severity, and the pattern of the affected muscles. All forms of MD grow worse over time as muscles progressively degenerate and weaken. Many people with MD eventually lose the ability to walk. Some types of MD also affect the heart, lungs, brain, or other organs. MD is not contagious and cannot be caused by injury or activity. Due to symptoms overlapping with many other diseases, muscular dystrophy can be difficult to quickly diagnose. Most cases of MD are caused by gene changes that affect muscle proteins. In some cases, MD is caused by a mutation in a person's genes. There are multiple types of MD such as duchenne muscular dystrophy (DMD), Becker muscular dystrophy, Congenital muscular dystrophy, etc. MD may be, in some cases, genetically linked. Duchenne muscular dystrophy is an example of a genetically linked form of MD.

Diagnosis

Diagnosing muscular dystrophy begins with a visit to your healthcare provider, with whom you will discuss your or your child's personal and family medical histories and symptoms. Your healthcare provider will likely recommend different diagnostic tests to help determine if you have muscular dystrophy and rule out other conditions that can also cause muscle weakness. There are many tests that can be done to confirm a diagnosis of MD. Click the button below to get an in-depth description of the tests.

Testing

Symptoms

Frequent falls.
Difficulty rising from a lying or sitting position.
Trouble running and jumping.
Waddling gait.
Walking on the toes.
Large calf muscles.
Muscle pain and stiffness.
Learning disabilities.

Life Expectancy

The life expectancy of muscular dystrophy is normal compared to other neurological disorders. Unfortunately, as it is with most of these disorders, the "normal" is quite short. On average, an individual who is diagnosed with MD will live up into their early 20s or 30s, depending on the type of MD. In some cases, the life expectancy can be as low as teenage years or as high as in the 50s

Cure

Unfortunately, as of right now there is no cure for muscular dystrophy. This is the same for many neurological disorders. However, while doctors and researchers are searching for a cure, new developments are being made towards treatment to improve living conditions of those with the disease and slow down its progression and severity.

Treatment

There are a couple treatments available to patients today. While these treatments do not stop the progression of the disease entirely, they can slow it down to some degree so that the patient can live more comfortably. A common treatment is gene replacement therapy. Gene therapy has the potential to address the primary cause of MD by providing for the production of the missing or underproduced protein. An example for an approved DMD therapy includes gene fragments called antisense oligonucleotides that allow for muscle cells to produce shortened but functional forms of dystrophin. Many clinical trials are still in the works and are expected to become available to the public in the next decade.

How MD Works

Although MD affects several body tissues and organs, it mainly damages the muscle fibers. The muscle fiber membrane contains a group of proteins, known as the dystrophin-glycoprotein complex, that prevent damage when muscle fibers contract and relax. When this protective membrane is damaged, muscle fibers leak the protein creatine kinase and take on excess calcium. This damages the fibers and causes them to die, leading to progressive muscle degeneration.