Duchenne Muscular Dystrophy by Lesley Figueroa

What is Duchenne Muscular Dystrophy?

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Duchenne Muscular Dystrophy is a genetic condition that causes muscles to progressively weaken and break down. The ICD-11 diagnosis code for this condition is 8C70.1.

Incidence:

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The estimated occurrence of DMD is approximately 1 in every 3,800 to 6,300 male births.

Prevalence:

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The prevalence of DMD is 1.7 to 4.2 cases per 100,000 people per year.

Etiology:

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The disease is caused by a genetic mutation in the dystrophin gene, leading to a lack of dystrophin protein in the muscles. This becomes a problem because dystrophin is essential for keeping muscle fibers from breaking down.

Typical course (progression) of DMD:

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Duchenne muscular dystrophy starts with muscle weakness in childhood, first affecting the hips, thighs, shoulders, and pelvis, leading to reduced strength, flexibility, and function. As the disease progresses into the teenage years, the weakness extends to the arms, lower legs, and torso. Since dystrophin is also missing from the heart and lung muscles, individuals may develop issues with breathing and heart function. Additionally, some may face learning and behavioral challenges due to the absence of dystrophin in the brain.

Symptoms:

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Progressive muscle weakness and loss of muscle bulk (atrophy)
Calf muscle enlargement (hypertrophy)
Difficulty with activities like climbing stairs
Worsening walking difficulties and frequent falls
Waddling gait and walking on tiptoes
Persistent fatigue
Heart muscle problems (cardiomyopathy)
Breathing issues and shortness of breath
Cognitive and learning difficulties
Delayed speech and language skills
Developmental delays
Scoliosis and shorter stature

Related Conditions:

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-Becker muscular dystrophy

Age of onset: Teen to early adulthood

The symptoms of Becker muscular dystrophy are like those of DMD , but less severe and progress at a slower rate. Becker disease almost always affects males, just like DMD.

-Distal muscular dystrophy

Age of onset: 40 to 60

Symptoms include weakness and atrophy in the muscles of the hands, forearms, and lower legs. The condition progresses slowly and rarely results in complete disability.

-Limb-girdle muscular dystrophy

Age of onset: Late childhood to middle age

Symptoms begin with weakness and atrophy in the shoulder and pelvic girdles. The condition progresses slowly, with death typically resulting from cardiopulmonary complications.

Client Factors and Performance skills:

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Client factors to address in DMD are body functions and body structure, as individuals with DMD experience widespread muscle weakness and rapid fatigue, which tend to worsen over time. It is important to focus on interventions that target muscle weakness and respiratory issues to help manage these challenges and maintain function as the disease progresses.

Performance skills to address in individuals with DMD include fine motor skills, which are essential for activities like dressing and other daily tasks. Process skills may also need attention, as some individuals with DMD struggle with concentration and may process information more slowly. Additionally, social interaction skills can be impacted due to limited mobility, cognitive challenges, and the emotional effects of living with DMD, all of which can make socializing more difficult and lead to feelings of isolation.

Interdisciplinary Roles:

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The interdisciplinary team working with a patient with DMD may include specialists from physiotherapy, orthopedics, respiratory care, cardiology, genetics, dietetics, and psychology. Additionally, occupational therapy, wheelchair therapy, and the muscle clinic physician all play important roles in the patient’s care.

Occupational therapy evaluation (assessment tools that may be utilized):

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Two assessment tools that can be used with patients with DMD include the North Star Ambulatory Assessment (NSAA), which measures motor function and walking ability in children with DMD, and the Activities of Daily Living (ADL) assessment, which evaluates the patient’s ability to perform various daily tasks.

Occupational Therapy Intervention:

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Occupational therapy interventions for patients with DMD may include postural management, which helps individuals maintain proper posture and avoid abnormal positions, making daily tasks easier to perform. Other interventions may focus on pain and fatigue management, workplace or school adaptations, and teaching patients how to use adaptive equipment to support their independence.

Caregiver Concerns:

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Some of the concerns caregivers of children with DMD face include struggling with their mental health, difficulty managing their environment, and experiencing financial strain. They also report missing work, which can jeopardize their job security, and needing to modify their homes to accommodate their child's needs. Additionally, non-DMD siblings may have to make sacrifices, which can impact their own well-being and development.

References:

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Allen, D. G., & Whitehead, N. P. (2011). Duchenne muscular dystrophy – What causes the increased membrane permeability in skeletal muscle? The International Journal of Biochemistry & Cell Biology, 43(3), 290–294. https://doi.org/10.1016/j.biocel.2010.11.005

Theadom, A., Rodrigues, M., Roxburgh, R., Balalla, S., Higgins, C., Bhattacharjee, R., Jones, K., Krishnamurthi, R., & Feigin, V. (2015). Prevalence of muscular dystrophies: A systematic literature review. Neuroepidemiology, 43(3-4), 259–268. https://doi.org/10.1159/000369343

Birnkrant, D. J., Bushby, K., Bann, C. M., Apkon, S. D., Blackwell, A., Brumbaugh, D., Case, L. E., Clemens, P. R., Hadjiyannakis, S., Pandya, S., Street, N., Tomezsko, J., Wagner, K. R., Ward, L. M., & Weber, D. R. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. The Lancet Neurology, 17(3), 251–267. https://doi.org/10.1016/s1474-4422(18)30024-3

Bushby, K., Bourke, J., Bullock, R., Eagle, M., Gibson, M., & Quinby, J. (2005). The multidisciplinary management of Duchenne muscular dystrophy. Current Paediatrics, 15(4), 292–300. https://doi.org/10.1016/j.cupe.2005.04.001

Kohler, M., Clarenbach, C. F., Böni, L., Brack, T., Russi, E. W., & Bloch, K. E. (2005). Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy. American Journal of Respiratory and Critical Care Medicine, 172(8), 1032–1036. https://doi.org/10.1164/rccm.200503-322oc

Schwartz, C. E., Stark, R. B., Audhya, I. F., & Gooch, K. L. (2021). Characterizing the quality-of-life impact of Duchenne muscular dystrophy on caregivers: A case-control investigation. Journal of Patient-Reported Outcomes, 5(1), 124. https://doi.org/10.1186/s41687-021-00386-y

Stone, K. (2007). Occupational therapy and Duchenne muscular dystrophy. John Wiley & Sons.

Muscular Dystrophy Association. (n.d.). Duchenne muscular dystrophy – What is Duchenne muscular dystrophy? Retrieved November 23, 2024, from https://www.mda.org/disease/duchenne-muscular-dystrophy#what-is-dmd

Parent Project Muscular Dystrophy. (n.d.). Duchenne muscular dystrophy – Progression. Retrieved November 23, 2024, from https://www.parentprojectmd.org/about-duchenne/what-is-duchenne/progression/

Cleveland Clinic. (n.d.). Duchenne muscular dystrophy. Retrieved November 23, 2024, from https://my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-dmd

University of Rochester Medical Center. (n.d.). Duchenne muscular dystrophy. Retrieved November 23, 2024, from https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=85&ContentID=P00792

Landfeldt, E., Thompson, R., Sejersen, T., McMillan, H. J., Kirschner, J., & Lochmüller, H. (2020). Life expectancy at birth in Duchenne muscular dystrophy: A systematic review and meta-analysis. European Journal of Epidemiology, 35(7), 643–653. https://doi.org/10.1007/s10654-020-00613-8

Resources for audience:

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Book: Duchenne Muscular Dystrophy

By; Alan E. H. Emery, Francesco Muntoni, Rosaline C. M. Quinlivan

Website: https://www.duchenne.com/

Organization: https://www.mda.org/disease/duchenne-muscular-dystrophy

Living with Duchenne muscular dystrophy:

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Questions:

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1.) Which protein helps prevent the breakdown of muscle fibers?

A) Actin
B) Antibodies
C) Dystrophin
D) Enzymes

2.) What are some of the symptoms of Duchenne muscular dystrophy (DMD)?

A) Progressive muscle weakness, calf muscle enlargement, difficulty walking, and heart problems
B) Increased muscle strength, improved coordination, faster learning abilities
C) Sudden improvement in muscle function, respiratory issues, and delayed motor skills
D) Joint hypermobility, improved speech, and taller stature

3.) What assessment tool can be used for individuals with Duchenne muscular dystrophy (DMD)?

A.) Activities of Daily Living (ADL) Assessment
B.) 6-Minute Walk Test (6MWT)

C.) Mini-Mental State Examination (MMSE)

D.)Rapid Mood Screener (RMS)