Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench scientist for six years in the field of neuroscience before embarking on a career in science communication. She worked as the research communication officer at MDUK, a UK-based charity that supports people living with muscle-wasting conditions, and then a research columnist and the managing editor of resource pages at BioNews Services before joining Rare Disease Advisor.
Muscular dystrophy (MD) is a group of genetic disorders characterized by progressive muscle weakness and atrophy eventually leading to disability.1 There are different genetic mutations and processes that can cause the many types of muscular dystrophy, from Duchenne (DMD) and Becker muscular dystrophies (BMD) to congenital MD and Emery-Dreifuss muscular dystrophy (EDMD). The symptoms, progression rates, and prognosis of each type of the disease are different. Understanding these genetic processes and their consequences can help patients better understand their disorder and prepare themselves for what the future may hold.
Importance of Patient Education
Patient education can allow patients and families to be fully aware of their disease and what to expect as it progresses. Research has shown that a better understanding of their disease can improve self-care and self-esteem in patients. It can also reduce anxiety, increase satisfaction with the care they receive, and better comply with treatment.2
Patient education can also ensure that patients and families recognize the different possible symptoms of their disease and seek adequate care in a timely manner.
Patient education can allow families to understand the underlying genetic cause of their disease and its inheritance pattern, and ensure they receive appropriate genetic counseling to calculate their risk of passing the disease onto the next generation.
Finally, patient education is important as it can help raise awareness about MD in society at large. This can reduce stigma and ensure an adequate support system for patients and their families.
Guides for Families About Muscular Dystrophy
Many resources are available to guide families and MD patients through their journey living with a progressive genetic disease. These include a comprehensive Duchenne family guide produced with the joint efforts of the Muscular Dystrophy Association, Parent Project Muscular Dystrophy, TREAT-NMD, and the World Duchenne Organization.3
The Muscular Dystrophy Association also has a number of other resources for other types of muscular dystrophy including myotonic dystrophy, facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), and Becker muscular dystrophy (BMD).4
There is also “Muscular Dystrophy: A Public Health Challenge,” produced by researchers at the Centers for Disease Control and Prevention, which contains information about efforts to improve the health and quality of life of people living with MD.5
Finally, the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) together with the American Academy of Neurology (AAN) produced summaries of evidence-based guidelines for patients and families affected by FSHD, congenital muscular dystrophy, and LGMD.4
Genetic Testing and Counseling
Once patients are educated about MD, they may want to be tested genetically. Genetic testing is crucial in the diagnosis, management, and treatment of MD. There are many free genetic tests available for people suspected of having MD or who may be carriers of the disease. These include the Decode Duchenne genetic testing program by Parent Project Muscular Dystrophy and Detect Muscular Dystrophy, a free genetic testing and counseling program sponsored by Invitae for people suspected of having MD.6,7
There are many types of MD caused by different genetic mutations and processes. Their inheritance pattern also differs, with some being inherited in an autosomal dominant, some in an autosomal recessive, and some in an X-linked manner.1 Genetic counseling can allow the members of a family affected by MD to understand their risk of passing the disease onto their own children. It can also offer information about alternative reproductive options to reduce this risk such as in vitro fertilization with preimplantation genetic testing.
For couples who have already conceived, prenatal genetic testing can allow the fetus to be tested for MD if either parent has a family history of the disease.
Newborn screening can identify genetic diseases such as MD at birth before symptoms appear. This can allow treatment to start immediately and cut down on many years of diagnostic struggle. Currently, there are no muscular dystrophies included in newborn screening programs in the US. However, organizations such as the Muscular Dystrophy Association are working on efforts to add DMD to newborn screening programs.8
In December 2019, the US Food and Drug Administration (FDA) authorized the first test to aid in newborn screening for DMD.9 The test, called the GSP neonatal creatine kinase-MM kit, could allow laboratories to add this test to their newborn screening panel. However, DMD is not yet in the Recommended Uniform Screening Panel (RUSP), which is a list of conditions for screening newborns that the US Department of Health and Human Services recommends states use.
- Muscular dystrophy: hope through research. National Institute of Neurological Disorders and Stroke. August 2013. Accessed June 28, 2021.
- Fernsler JI, Cannon CA. The whys of patient education. Semin Oncol Nurs. 1991;7(2):79-86. doi:10.1016/0749-2081(91)90085-4
- The diagnosis and management of Duchenne muscular dystrophy – a guide for families. 2018. Accessed July 11, 2021.
- Muscular dystrophy free materials. Centers for Disease Control and Prevention. Accessed July 11, 2021.
- Muscular dystrophy: a public health challenge. Centers for Disease Control and Prevention. Accessed July 11, 2021.
- PPMD’s decode Duchenne program. Parent Project Muscular Dystrophy. Accessed May 24, 2021.
- Detect Muscular dystrophy. invitae.com. Accessed May 24, 2021.
- Newborn screening for neuromuscular diseases. Muscular Dystrophy Association. Accessed May 24, 2021.
- FDA authorizes first test to aid in newborn screening for Duchenne muscular dystrophy. News Release. US Food and Drug Administration; December 12, 2019.
Article reviewed by Debjyoti Talukdar, MD, on July 1, 2021.