Muscular Dystrophy

By: Mia Gradelski

History of the Disease

• Duchenne Muscular Dystrophy was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s
• In the 1980's it was identified as a lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.
• Study: In the 1860s he described severe progressive muscle weakness in 13 young boys

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Symptoms of the Disease

• About half of people with muscular dystrophy have this variety. Although girls can be carriers and mildly affected, the disease typically affects boys.
• About one-third of boys with Duchenne Muscular Dystrophy don't have a family history of the disease (spontaneous mutation).

Signs and symptoms typically appear between the ages of 2 and 3, and may include:

• Frequent falls
• Difficulty getting up from a lying or sitting position
• Trouble running and jumping
• Waddling gait
• Walking on the toes
• Large calf muscles
• Muscle pain and stiffness

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Cause of the Disease

• Certain genes are involved in making proteins that protect muscle fibers from damage. Muscular dystrophy occurs when one of these genes is defective.
• Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Many of these mutations are inherited. But some occur spontaneously in the mother's egg or the developing embryo and can be passed onto the next generation.

Risk factors

• Muscular dystrophy occurs in both sexes and in all ages and races.
• The most common variety, Duchenne, usually occurs in young boys. People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.

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Treatments for the Disease

• There's no cure for any form of muscular dystrophy. But treatment can help prevent or reduce problems in the joints and spine to allow people with muscular dystrophy to remain mobile as long as possible.

Treatment options include medications, physical therapy, and surgical and other procedures.

• Medications
• Home remedies
• Surgery
• Therapy

Identification of the Disease

Muscular dystrophy (MD) is diagnosed through a physical exam, a family medical history, and tests. These might include:

• A muscle biopsy (the removal and exam of a small sample of muscle tissue)
• DNA (genetic) testing
• Electromyography or nerve conduction tests (which use electrodes to test muscle and/or nerve function)
• Blood enzyme tests (to look for the presence of creatine kinase, which reveals deterioration of muscle fibers)

For Duchenne and Becker Muscular Dystrophies, muscle biopsy may show whether dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze the condition of the related gene.

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Hardy- Weinberg Data:

Demonstrating gene frequencies from 16 generations

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Individual Muscular Dystrophy Spreadsheet:

https://docs.google.com/spreadsheets/d/1WJF2ZI4Q11oyqTaj3WxSm8sOIWmXd9Aiwjx9w6bnuZ0/edit#gid=0

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Lab Group Spreadsheet:

https://docs.google.com/spreadsheets/d/1FolWXfR5EBYDxolZjYC8xnyyYw7ylVy4NRPTSJiqHN8/edit?ts=5a709400#gid=0

Bioethical Considerations

1. Equity and harm by omission. This raises the real possibility of those children with rarer exons being denied a potentially life saving treatment.
2. If therapies are developed for the rarer mutations, risk and uncertainty become more difficult to assess.
3. Justice and minimum entitlement: given that minimum entitlement in this case is likely to be very expensive (the comparable my ozone therapy costs $300,000 per person, per year).

Works Cited

“Muscular Dystrophy Association.” Muscular Dystrophy Association, www.mda.org/.

“Muscular Dystrophy.” Background, Pathophysiology, Etiology, 11 Sept. 2017, emedicine.medscape.com/article/1259041-overview.

“Muscular Dystrophy.” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 7 Apr. 2016, www.cdc.gov/ncbddd/musculardystrophy/facts.html.

“Muscular Dystrophy.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy.

“Muscular Dystrophy.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 27 Nov. 2014, www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388.

“Muscular Dystrophy: Types, Symptoms, and Diagnosis.” Healthline, Healthline Media, www.healthline.com/health/muscular-dystrophy.

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