Duchenne Muscular Dystrophy Essay

Duchenne Muscular Dystrophy is one of the most severe yet common cases of Muscular Dystrophy that occurs mainly in boys of younger age. Guillaume Benjamin Amand Duchenne, who was a French neurologist, was the first to discover this disorder in the 1860s (Emery, 2008, pp. 25). This disease is an X-linked disorder which affects the skeletal system, and causes rapid muscular weakness and heart muscle problems. It’s stated that 1 out of every 3,600 males will be diagnosed with Duchenne Muscular Dystrophy

“If it came to a magic genie, I would ask him for two extra wishes. One would be that no one would have to live with the muscular dystrophy disease or any disease,” –Mattie Stepanek. Mattie was just one of the many unfortunate children diagnosed with a muscular dystrophy. The most severe of them all is Duchenne Muscular Dystrophy also known as DMD. Duchenne Muscular Dystrophy is caused by a defect or a mutation in the DMD gene located in the X chromosome. This gene provides instruction for a protein

Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles." Muscular Dystrophy has no cures, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org) Duchenne's

The Genetics of Duchenne Muscular Dystrophy Duchenne muscular dystrophy is the most common genetic disease fatal in children, it is a severe and rapidly progressive muscle disease with symptoms that first become evident due to the affected child showing early motor developmental delay; for example, presentation of Gower’s sign, a diagnostic indicator of proximal muscle weakness characterised by the affected having to “walk” their hands up their body to stand due to little strength being present in

Duchenne Muscular Dystrophy Genetic Disorder Introduction to Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is one of many types of muscular dystrophy disorders, which affect the muscle fibers. It is the most aggressive form of muscular dystrophy. The muscle fibers gradually become weaker and incapacitate the affected individual. “DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males (NCBI, 2014).” Males are more susceptible to inherit

Duchenne Muscular Dystrophy (DMD) is a fatal genetic disorder that is caused by mutations in the gene DMD, which encodes the muscle protein, dystrophin. Dystrophin protein is crucial to preserve the strength, stability, and flexibility of muscle fibers, which protects them from injury as they contract and relax. The DMD gene is primarily located in skeletal and cardiac muscle. Duchenne Muscular Dystrophy is caused by mutations in the gene that produce premature stop codons. The premature stop codons

Duchenne Muscular Dystrophy is diagnosed from many symptoms in many ways. Since the disorder is most likely going to be inherited, doctors will look at the medical history of the family. Once the background of family history is done, a physical examination of the patient will occur. The examinations are done in various ways. One of the first examinations that physicians do would be the CK ( creatine kinase) level blood test. Creatine Kinase is an enzyme that disclosures out damaging muscles

1.0 Abstract Duchenne Muscular Dystrophy is a degenerative X-linked recessive disorder usually resulting in death in the late third decade. Mutation of Dystrophin gene at Xp21 disrupts the mRNA reading frame resulting in absent dystrophin protein in muscle cells. Currently no therapy can counteract the disease effectively. Exon skipping with oligonucleotide administration restores the reading frame of the mRNA to produce truncated but functional dystrophin and requires repeated administration

Description Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015) Epidemiology Duchenne Muscular Dystrophy is the most common muscular dystrophy disorder. In the United States DMD affects 1 in 3,500 males. 2/3 of those cases are

Duchenne Muscular Dystrophy Imagine how it would be like if you can’t run and have to be in a wheelchair at a young age. You would face lot’s of difficulties like having to get up and walking. A rare disease called Duchenne Muscular Dystrophy can do this to you. Duchenne is a disease with rapidly worsening muscle weakness. It is not very well know. Boys are more likely to have it them girls because boys don’t inherit a flawed dystrophin gene. This gene protects you from Duchenne. This rare disease