Muscular Dystrophy Treatments

Introduction:

• Muscular dystrophy is a genetic disease which is associated with X chromosome defect.

• This result is the impairment physically and mentally of an individual. This condition affects mainly males

• This condition is the interest of many professional such as physical medicine and rehabilitation specialist, and physical and occupational therapist and mostly relatives
• It is important to close family because an individual with this condition need supervision all the time.

• There is different type of muscular dystrophies

– Duchenne muscular dystrophy (highly progressive)

– limb girdle muscular dystrophy Slow

– Becker muscular dystrophy

– Facioscapulohumeral Muscular Dystrophy

• Thesis statement: Duchenne muscular dystrophy could be improved by the intake of Eteplirsen, myoblasts transferred and ex vivo gene therapy

Subtopic 1: The effect of eteplirsen on individuals with Duchenne muscular dystrophy

• This drug work on the restoration of the transitional reading frame of DMD avoiding the exon 51. (Kenji et al 2017)
• Recently study involves Eteplirsen and placebo correlate the same results. (Mendell et al 2013)

Subtopic 2: Myoblast transplant outcome

• Myoblast transplant is the first gene therapy proposed to treat DMD. (Partridge et al 2002)
• Overall, no positive improvement on elbow flexion. .( Mendell et al1995)

Subtopic 3:  Engraftment of μUTRN-corrected iPS-derived myogenic precursors in dKO mice

• More Realistic outcome (Mayhew et al 2013)
• Show improvement on leg control
• Overall, it was not able to restore muscular function

Conclusion:

Duchenne muscular dystrophy affected approximately 1 in every 5,600 individuals. (Centers for Disease Control and Prevention et al 2009)

• This condition disables individual quick
• Need assistance 24/7
• More Research should be done in this area to help individual recover their abilities.

References:

1-Lue, Y. J., Lin, R. F., Chen, S. S., & Lu, Y. M. (2009). Measurement of the functional status of patients with different types of muscular dystrophy. The Kaohsiung journal of medical sciences, 25(6), 325-333.

2- Mayhew, A., Mazzone, E. S., Eagle, M., Duong, T., Ash, M., Decostre, V., … & Bianco, F. (2013). Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy. Developmental Medicine & Child Neurology, 55(11), 1038-1045.

3-Mendell, J. R., Kissel, J. T., Amato, A. A., King, W., Signore, L., Prior, T. W., … & Nagaraja, H. (1995). Myoblast transfer in the treatment of Duchenne’s muscular dystrophy. New England Journal of Medicine, 333(13), 832-838

4- Mendell, J. R., Rodino‐Klapac, L. R., Sahenk, Z., Roush, K., Bird, L., Lowes, L. P., … & Malik, V. (2013). Eteplirsen for the treatment of Duchenne muscular dystrophy. Annals of neurology, 74(5), 637-647.

5- Partridge,T. (2002). Myoblast transplantation. Myoblast transplantation, pages S3-S6.

6- Lim, K. R., Maruyama, R., & Yokota, T. (2017). Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug design, development and therapy, 11, 533–545.

7- Centers for Disease Control and Prevention. (2009). Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years—four states, 2007. MMWR Morbidity and Mortality Weekly Report, 58, 1119-1122. Retrieved June 21, 2012, from