Muscular Dystrophy

For boys with Duchenne that do not have a family history of muscular dystrophy, it can take an average of 2.5 years from the time a caregiver notices the first symptom to the point of diagnosis via muscle biopsy or DNA testing. The average age for diagnosis is 5 years old.

Genetic testing may provide more information about the specific cause and help identify the type of muscular dystrophy. It can also give patients an understanding of potential future complications of their disease as it progresses, as well as the chances of passing on any gene mutations to children.

There’s no prevention, cure, or long-term treatment for muscular dystrophy. Treatment options to slow the progression of muscular dystrophy depend on the type of muscle degeneration.

Physical and occupational therapy may be helpful for some patients. If the disease affects a person’s respiratory muscles, they may need to use some type of assisted ventilation. If it affects their cardiac muscles, a pacemaker may be used to regulate muscle activity.

For those who have an absence or mutation of the dystrophin protein, treatment may include injections of drugs that boost production of this protein. Other drug therapies include corticosteroids, anticonvulsants, immunosuppressants, and antibiotics to combat respiratory infection. While steroids have many benefits, they can also have significant side effects, including high blood pressure and difficulty sleeping. Research has shown that creatine, a supplement used by athletes and weightlifters, can help rebuild muscle strength and may prevent side effects of corticosteroids for people with DMD.

In 2019, the American Brain Foundation awarded Jerry Mendell, MD, FAAN its “Cure One, Cure Many” award for his research into a one-time treatment for children with spinal muscular atrophy. His treatment offers what is essentially a cure for an otherwise fatal disease and can be built upon to treat patients with Duchenne and limb-girdle muscular dystrophy. Dr. Mendell’s research underscores the interconnectedness of brain diseases and the importance of studying the whole brain.