MUSCULAR DYSTROPHY 1

Clinical Review Paper, Part 1: Muscular Dystrophy

Angel Alvarez & Joshua Wilson

Master of Science in Occupational Therapy, Pacific Northwest University of Health Sciences

OTH 525: Human Capacities II

Dr. Wendell Nakamura

February 5th, 2024

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Clinical Review Paper, Part 1: Muscular Dystrophy

Muscular dystrophy (MD) is a genetic disease resulting from mutations in an individual’s

genes, leading to the gradual weakening of muscles and a subsequent reduction of mobility,

which complicates everyday tasks. There are various types of MD, each impacting different

skeletal muscle groups and displaying diverse severity levels. The onset occurs before age 5, but

symptoms can also appear later in adulthood (Centers for Disease Control and Prevention

[CDC], 2022). Physiological responses to the underlying different genetic types can characterize

a family history of MD, and individuals with the same type of muscular dystrophy may

experience different symptoms. The most common type of MD is Duchenne. Duchenne muscular

dystrophy (DMD) has been shown to affect the central nervous system from a dysfunction in the

dystrophin neurotransmitter in the brain. There are 30 forms/types of muscular dystrophy. We

found there are nine commonly diagnosed forms of MD there is Duchenne Muscular Dystrophy,

Becker Muscular Dystrophy, Myotonic Muscular Dystrophy, Limb-girdle Muscular Dystrophy,

Facioscapulohumeral Muscular Dystrophy, Emery-Dreifuss Muscular Dystrophy, Distal

Muscular Dystrophy, Congenital Muscular Dystrophy, and Oculopharyngeal Muscular

Dystrophy (Martin, 2023).

MD can affect the central nervous system function of the heart, smooth muscles, and

endocrine and exocrine glands (NINDS, 2020). The dystrophin-glycoprotein complex is a group

of proteins that resides within the muscle fiber membrane to protect the muscle when the muscle

contracts and relaxes. MD will cause damage to this protective complex, allowing the protein

creatine kinase to seep out of the fibers and amass excess calcium in the muscle. Calcium

buildup deteriorates and will destroy muscle fibers, causing the progression of MD (NINDS,
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2020). MD can be contacted in three ways: by defects in the glycoprotein complex, neighboring

connective tissues to muscles, and toxic products originating in the muscle fibers.

Theadom et al. (2014) found that the combined prevalence of all muscular dystrophies

ranged between 19.8 and 25.1 per 100,000 people-years, based on a systematic literature review

of studies published between 1960 and 2013. In Washington, the Medicaid FFS (Fee for Service)

estimates the prevalence of DMD to be 100. The incidence of new DMD cases at birth is

estimated to be 6 (National Institute of Neurological Disorders and Stroke, 2020). The

prevalence of DMD in Washington State is estimated to be 4.6 per 100,000 males, based on data

from the MD StarNet project. This means about 386 males of all ages have DMD in Washington

State. The 2017 prevalence data estimates that about 368 males of all ages have DMD in

Washington. The 2017 incidence data estimates that about one in 5,814 male babies has DMD in

Washington state (Ryder et al., 2017). Thayer et al. (2017) found that amyotrophic lateral

sclerosis, myotonic dystrophy, and DMD have a total annual cost with insurance and out-of-

pocket costs of $22,533, and the total nonmedical cost was $12,939 for DMD in 2010.

In the intricate realm of health and wellness, we often overlook disparities in disease

incidence and prevalence, especially in disadvantaged communities. Managing Duchenne

Muscular Dystrophy (DMD) can be costly, and racial/ethnic and impoverished communities may

face limited access to quality healthcare and support services. Organizations such as the

Muscular Dystrophy Association, Parent Project Muscular Dystrophy, and World Duchenne

Organization aim to assist these communities. However, their outreach does not extend to all

communities diagnosed with MD (Phillips, 2020).

A research article reveals racial differences in healthcare utilization despite individuals

having the same health insurance coverage. This suggests that simply providing coverage to
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individuals with MD may not be enough to eliminate health disparities (Ozturk et al., 2015).

Data from the CDC further illustrates this point. From 1982 to 2015, the impact of muscular

dystrophy varied significantly across different racial and ethnic groups. DMD affected 2.3% of

Asian/Hawaiian/Pacific Islanders, 7.2% of non-Hispanic blacks, 19.8% of Hispanics/Latinos,

and 59.9% of non-Hispanic whites (CDC, 2022). This data underscores the need for a more

comprehensive and inclusive approach to managing and treating DMD.

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References:

Centers for Disease Control and Prevention. (2020, October 28). Facts about muscular

dystrophy. https://www.cdc.gov/ncbddd/musculardystrophy/facts.html

Hartnett, M. J., Lloyd-Puryear, M. A., Tavakoli, N. P., Wynn, J., Koval-Burt, C. L., Gruber, D.,

Trotter, T. L., Casini, M., Chung, W. K., Armstrong, N., & Brower, A. (2022). Newborn

screening for Duchenne muscular dystrophy: First-year results of a population-based

pilot. International Journal of Neonatal Screening, 8(4), 50.

https://doi.org/10.3390/ijns8040050

Martin, C. (2023, December 16). What are the different types of muscular dystrophy? Verywell

Health. https://www.verywellhealth.com/muscular-dystrophy-types-5180145

National Institute of Neurological Disorders and Stroke. (n.d.). Muscular dystrophy.

https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy

Ozturk, O. D., McDermott, S., Mann, J. R., Hardin, J. W., Royer, J. A., & Ouyang, L. (2014).

Disparities in health care utilization by race among teenagers and young adults with

muscular dystrophy. Medical Care, 52(10 Suppl 3), S32–S39.

https://doi.org/10.1097/MLR.0000000000000194

Phillips, Q. (2020, July 10). Support and resources for Duchenne muscular dystrophy.

EverydayHealth.com. https://www.everydayhealth.com/genetic-diseases/support-and-

resources-for-duchenne-muscular-dystrophy/

Ryder, S., Leadley, R. M., Armstrong, N., Westwood, M., de Kock, S., Butt, T., Jain, M., &

Kleijnen, J. (2017). The burden, epidemiology, costs and treatment for Duchenne
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muscular dystrophy: An evidence review. Orphanet Journal of Rare Diseases, 12(1), 79.

https://doi.org/10.1186/s13023-017-0631-3

Thayer, S., Bell, C., & McDonald, C. M. (2017). The direct cost of managing a rare disease:

Assessing medical and pharmacy costs associated with Duchenne muscular dystrophy in

the United States. Journal of Managed Care & Specialty Pharmacy, 23(6), 633–641.

https://doi.org/10.18553/jmcp.2017.23.6.633

Theadom, A., Rodrigues, M., Roxburgh, R., Balalla, S., Higgins, C., Bhattacharjee, R., Jones, K.,

Krishnamurthi, T., & Feigin, V. (2015). Prevalence of muscular dystrophies: A systematic

literature review. Neuroepidemiology, 43(3-4), 259–268.

https://doi.org/10.1159/000369343
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Part 1: Overview of the Condition

Criteria Score
General Description
1. Provides a clear and concise broad description of the condition. 5/5
2. Includes potential causes of the condition (e.g., genetics, lifestyle, environment) 5/5
3. Identifies major structures of the central nervous system that are affected, 10/10
including neurotransmitters
Subtotal 20/20
Global Burden of Disease
4. Identifies incidence of the condition 5/5
5. Identifies prevalence of the condition 5/5
6. Identifies medical costs associated with treating the condition 15/15
7. Identifies non-medical costs associated with the condition 5/5
Subtotal 30/30
Health Disparities
8. Summarizes the impact on disadvantaged communities 20/20
Subtotal 20/20
Composition
9. Includes title page that is formatted according to instructor guidelines 3/5
10. Writing style and grammar follow APA (7th ed.) guidelines 4/5
th
11. Uses bias-free language according to APA (7 ed.) guidelines 5/5
12. Mechanics of style follows APA (7th ed.) guidelines 4/5
th
13. In-text citations follow APA (7 ed.) guidelines 4/5
14. Reference list follows APA (7th ed.) guidelines 3/5
Subtotal 23/30
SUMMATIVE TOTAL 93/100
Feedback: Angel and Joshua, a well-written paper. Clearly organized and good summary of the
condition. You lost points mostly having to do with following APA.