Duchenne Muscular Dystrophy (DMD)

what is it? where does it occur? may we ever know?

Background Information on Duchenne Muscular Dystrophy

This disease was first described by a french neurologist that goes by the name of Guillaume Benjamin Amand Duchenne and this occurred in the 1860's, but it goes back even further than that. The first recorded historical account of dystrophy appeared in the 1830's.
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Type of Genetic Disorder

Little was known about the cause of any forms of DMD until the 1980's. In 1986, MDA-supporter researchers identified a gene that when mutated causes Duchenne and Becker muscular dystrophies. As we all know genes contain codes for proteins. DMD occurs when the mutated genes fails to produce any dystrophin. Dystrophin is a rod shaped cytoplasmic protein, and a part of a protein complex that connects the cytoskeleton of a muscle fiber to the extracellular matrix.
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DMD

DMD

Symptoms of DMD

The symptoms of DMD is pain and sensation,heart problems, respiratory function, and learning disability.

Effects of DMD disorder

The effects of DMD disorder is that you will lose the ability to be able to walk, learn, and have the proper body functions overall.

Punnett Square of DMD

Inheritance in DMD

DMD is inherited in an X-linked pattern, because the gene is carried on an X chromosome.

How is DMD Diagnosed?

They look at the CK level which is an enzyme that leaks out of damaged muscle. They do genetic testing and muscle biopsy. The use a muscle biopsy to test for DMD.

Prognosis of DMD

In the boys early ages they are able to run,walk,and play with their peers. Later on down the line you will see differences in the way they walk. They will walk on their toes and climb stairs slowly and it will be more difficult for them to get up from the floor. It will be more difficult for them to be able to fit in with their peers and enjoy physical activities. It impact the family because they are seeing their relative struggling and there's nothing that they can do about it.

Treatments for DMD

Treatments that are available for DMD would be amino acids, carnitine, coenzyme Q10, creatine, fish oil, green tea extracts and vitamin E.

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Current Research

The current researchers that is researching this topic is MDCRC. That stands for Muscular Dystrophy Cooperative Research Center.

Summary

Meghan's story of her having Zach at the age of 18 and finding out years later that he had muscular dystrophy was very hard for her. She finally accepted it and her and Zach fought this battle together. She felt to proud to see although her son was physical immobile, he still stood strong and could make up vocally for his immobilities.

Works Cited

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5 Important Notes

  • There is no cure for DMD
  • DMD can be treated using surgical methods such as tendon release
  • The average lifespan of a person with muscular DMD is roughly 20 years
  • Males are more likely to be affected
  • Your upper arms and legs usually show weakness first
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