What are the treatments for muscular dystrophy (MD)?

Currently available treatments for MD can help manage and reduce the severity of symptoms. Ongoing research on treatments, including some gene-based approaches, also show promise for slowing or even reversing some symptoms of certain types of MD.

The information provided here is not all-inclusive of the treatments or medications that might be used or prescribed for people with MD. If you have questions about treatments for MD, please discuss them with your healthcare provider.

NIH research on MD is led by the National Institute of Neurological Disorders and Stroke (NINDS). The NINDS website on MD offers more comprehensive information about treatments.

MD treatments may include the following.1,2,5

Physical Therapy

Beginning physical therapy early can help keep muscles flexible and strong. A combination of physical activity and stretching exercises may be recommended for people with MD.

Respiratory Therapy

Because the body relies on muscles such as the diaphragm to breathe, weakened muscles from MD may affect breathing. Many people with MD do not realize they have lost respiratory strength until they have difficulty coughing or an infection leads to pneumonia. Shortly after MD is diagnosed, specialists can suggest treatments to prevent or delay respiratory problems. Eventually, some people with MD may need a ventilator to help them breathe.

Speech Therapy

MD patients who experience weakness in the facial and throat muscles may benefit from speech therapy to teach them how to maximize their muscle strength. Some methods include slowing the pace of their speech, pausing more between breaths,3 and using specialized communication equipment.

Occupational Therapy

As physical abilities change, occupational therapy can help patients with MD relearn lost motor skills and learn ways to work around weakened muscles. Occupational therapy also teaches people with MD how to use assistive devices, such as wheelchairs, eating utensils, and personal items, including hair- and toothbrushes.

Surgery

At various times and depending on the form of MD, many people with MD need surgery to treat some of the conditions associated with MD. For instance, people with myotonic MD may need to have a pacemaker installed to treat heart problems or surgery to remove cataracts, a clouding of the lens of the eye that blocks light from entering the eye. Some people with MD may need surgery for scoliosis, or curvature of the spine.

Drug Therapy

Certain medications can help delay damage to muscles or minimize the symptoms of MD. These can include the following:

  • Glucocorticoids4,5 such as prednisone or deflazacort, which was approved by the U.S. Food and Drug Administration (FDA) for treating DMD in 2017. Studies show that daily treatment with prednisone can increase muscle strength and respiratory function and slow the progression of weakness in MD.
    • A new glucocorticoid treatment called vamorolone is being studied in boys with DMD. Early results showed the treatment had similar benefits to those from prednisone but without the side effects.6
    • NICHD-funded researchers found that vamorolone also helped treat symptoms of limb-girdle MD in animal models. (PMID 30166241)
  • Anticonvulsants. Typically taken for epilepsy, these drugs may help control seizures and some muscle spasms in people with MD.
  • Immunosuppressants. Commonly given to treat autoimmune diseases such as lupus and eczema, immunosuppressant drugs may help delay some damage to dying muscle cells in MD.
  • Beta blockers, angiotensin-converting-enzyme (ACE) inhibitors, and other medications for treating heart problems, such as high blood pressure and heart failure, which are associated with certain types of MD.

Gene-Based Therapy

Restoring a gene’s ability to produce usable proteins as a treatment for MD is an active area of study, but many of these therapies are still in development. Some methods focus on correcting the function of a specific gene, while others rely on a genome-wide approach.7

Other gene-based methods, such as the drug eteplirsen, uses a process called “exon skipping” to produce usable dystrophin protein by “skipping” over the part of the gene that causes problems with the muscle proteins. In exon skipping, more muscle protein is available and usable, even though it is shorter than the normal protein. FDA approved eteplirsen for treatment of DMD in 2016,8 golodirsen in 2019,9 and viltolarsen in 2020.10 These treatments require weekly intravenous injection and do not cure DMD. Studies are ongoing for all three of these drugs to demonstrate clinical benefit beyond increased dystrophin production. Because the gene that causes DMD is very large, less than one-quarter of people with DMD may respond to these treatments. Research is also ongoing on other drugs that increase production of dystrophin in fetuses and correct other problems with protein instructions and production.

Citations

  1. National Institute of Neurological Disorders and Stroke (NINDS). (2019). Muscular dystrophy information page. Retrieved March 26, 2020, from https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page
  2. NINDS. (2020). Muscular dystrophy: Hope through research. Retrieved March 1, 2019, from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Hope-Through-Research/Muscular-Dystrophy-Hope-Through-Research
  3. Wahl, M. (2001, February). Sorting out speech services. Quest, 8(1). Retrieved March 2, 2017, from https://www.mda.org/quest/article/sorting-out-speech-services external link
  4. Moxley, R. T., III, Ashwal, S., Pandya, S., Connolly, A., Florence, J., Matthews, K., et al.; Quality Standards Subcommittee of the American College of Neurology; Practice Committee of the Child Neurology Society. (2005). Practice parameter: Corticosteroid treatment of Duchenne dystrophy. Neurology, 64, 13–20. Retrieved March 26, 2020, from https://pubmed.ncbi.nlm.nih.gov/15642897/
  5. Sheehan, D. W., Birnkrant, D. J., Benditt, J. O., Eagle, M., Finder, J. D., Kissel, J., et al. (2018). Respiratory management of the patient with Duchenne muscular dystrophy. Pediatrics, 142(Suppl 2), S62–S71. Retrieved March 30, 2020, from https://pubmed.ncbi.nlm.nih.gov/30275250/
  6. Foundation to Eradicate Duchenne. (n.d.). ReveraGen BioPharma. Retrieved March 2, 2017, from http://duchennemd.org/about-us/reveragen-2/ external link
  7. Darras, B. T., Urion, D. K., & Ghosh, P. S. (2000, September 5 [Updated 2018, April 26]). Dystrophinopathies. In M. P. Adam, H. H. Ardinger, R. A. Pagon, & S. E. Wallace (Eds.), GeneReviews® [Internet]. Seattle, WA: University of Washington. Available from https://www.ncbi.nlm.nih.gov/books/NBK1119/?report=classic
  8. Food and Drug Administration (FDA). (2016, September). FDA grants accelerated approval to first drug for Duchenne muscular dystrophy. Retrieved March 30, 2020, from https://www.fda.gov/news-events/press-announcements/fda-grants-accelerated-approval-first-drug-duchenne-muscular-dystrophy
  9. FDA. (2019, December). FDA grants accelerated approval to first targeted treatment for rare Duchenne muscular dystrophy mutation. Retrieved September 30, 2020, from https://www.fda.gov/news-events/press-announcements/fda-grants-accelerated-approval-first-targeted-treatment-rare-duchenne-muscular-dystrophy-mutation
  10. FDA. (2020, August). FDA approves targeted treatment for rare Duchenne muscular dystrophy mutation. Retrieved September 30, 2020, from https://www.fda.gov/news-events/press-announcements/fda-approves-targeted-treatment-rare-duchenne-muscular-dystrophy-mutation
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