If you have muscular dystrophy (MD) or care for someone who has one of these muscle-wasting diseases, you know firsthand how challenging it can be to treat and manage—and you're probably a sponge for any new information.

If so, you'll welcome the latest guidelines governing the diagnosis and treatment of MD, which were co-developed by the American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM). The guidelines offer instruction on diagnosing and managing both limb-girdle and distal muscular dystrophies. Limb-girdle muscular dystrophies mainly affect the muscles close to the hips or shoulders; distal muscular dystrophies affect the muscles further away from the trunk, such as the hands and feet.

Consider Genetic Testing

Only about 15 percent of people with either type have had their diagnoses genetically confirmed, says guidelines co-author Matthew P. Wicklund, MD, a professor of neurology and pediatrics at Penn State Hershey Medical Center and a Fellow of the American Academy of Neurology (FAAN). That's because until recently, genetic testing was only available for two or three of the most common muscle diseases. Today, tests can identify more than 50 different genetic causes.

Knowing the specific cause can help you and your doctor predict some of the cardiac, pulmonary, and other complications you may be predisposed to and take steps to monitor and prevent them. A genetic diagnosis can also tell you how likely you are to pass the condition on to your children and give the sort of closure a specific diagnosis allows. Plus, a genetic test can help researchers identify appropriate gene therapies.

Connect With A Specialized Clinic

Although no current treatments can cure or alter the progression of the disease, there are strategies for treating the symptoms and helping patients lead more independent, comfortable, and complication-free lives, says Dr. Wicklund.

One of those strategies is to visit a specialized clinic, specifically one that includes multiple therapies (such as physical, occupational, respiratory, speech, and swallowing therapy) and specialties such as cardiology, pulmonology, orthopedics, genetics, and physiatry and rehabilitation medicine.

To find a clinic, visit the Muscular Dystrophy Association (MDA). The MDA operates 200 clinics across the United States and Puerto Rico. If there's nothing nearby, ask your doctor to assemble a team of specialists to manage the disorder.

Stay Current With Vaccinations

Another important recommendation for people with muscle diseases: Get flu and pneumonia vaccinations annually. Flu shots can help reduce infections, which may be serious if patients have underlying pulmonary complications, says AAN member Valerie A. Cwik, MD, executive vice president and chief medical and scientific officer of the MDA.

Exercise Safely

The guidelines recommend exercise in moderation and under supervision. Exercise can improve cardiovascular and pulmonary function and increase mobility and flexibility, but too much can exacerbate damage already done to the muscles, say Dr. Cwik and Dr. Wicklund. Signs of too much exercise include feeling weaker rather than stronger after activity, having muscle pain 24 to 48 hours afterward, muscle cramping, heaviness in the hands and feet, and prolonged shortness of breath.

Keep Up With The Research

Scientists continue to look for ways to cure or slow muscular dystrophy. Current research focuses on two different areas: developing drugs or gene therapies that replace or inhibit abnormal or mutant proteins, and developing medications that encourage muscle regeneration. The former is specific to the various genetic mutations, while the latter may be applied across all types of muscle diseases, says Dr. Cwik. Dr. Wicklund is optimistic that there will be a medical breakthrough in the next five to 15 years.

Where To Get Free Genetic Testing

The Jain Foundation has partnered with other groups involved with limb-girdle muscular dystrophy to offer free genetic testing. To participate, fill out an 18-question online quiz to see if you qualify and to narrow down the type of muscular dystrophy you have. If you qualify, the Jain Foundation will email you with instructions on how to proceed with the free test.

For more information, visit the Jain Foundation or talk to your physician, an MDA clinic director, or a genetic counselor.

Muscular Dystrophy: The Basics

Muscular dystrophy (MD) refers to a large number of different and relatively rare genetic disorders that cause muscles to atrophy or "thin." Ninety percent of them are inherited. Ten percent of patients develop de novo mutations, in which the disease gene appears spontaneously. So far, there are more than 50 known genetic causes of MD, and researchers believe they have not yet isolated all types.

The disease is progressive, with muscles growing weaker over time and damage sometimes spreading from one group of muscles to another. The muscles affected are usually in the legs and arms, but can also include muscles in the heart and lungs, as well as those in the mouth and throat.

Rates of progression, age at onset, and degree of disability may differ with each disorder. The symptoms can also vary enormously (different muscle groups affected, different rates of progression, different outcomes) in people with the same disease gene.