Duchenne Muscular Dystrophy (DMD) is a rare single gene disorder affecting 1 in 3,500 boys. The muscles of the affected person weaken and waste away (atrophy), usually beginning in the lower limbs and then spreading to the upper body as the disease progresses (1). This disorder is caused by recessive mutations in a gene called dystrophin. The dystrophin gene is located on the X chromosome (Xp21.2). Because the X-linked disorder is recessive it occurs mostly in males because males who inherit the…
1 Name of your Genetic Disorder: Duchenne muscular dystrophy (DMD) 2 Gene locus on which chromosome: Gene locus on the short arm of the X chromosome named Xp21. 3 Type of disorder (autosomal, sex-linked, dominant, recessive, aneuploidy?): DMD has an X-linked recessive inheritance pattern. 4 Symptoms of the disorder: According to the National Human Genome Research Institute , generally, the symptoms of DMD appear between the age of 1 and 6. Since the age of one, the patient…
Duchenne Muscular Dystrophy The body is like one huge scale that needs constant conservation to maintain balance for a stable state of survival. Homeostasis is the component that helps the body maintain balance. There are four core principles that help homeostasis keep balance which are, feedback loops, relationship of structure and function, gradients, and cell to cell communication. “Muscular homeostasis is cell to cell communication that coordinate their functions and maintain homeostasis…
Duchenne muscular dystrophy (DMD) is a one type of muscular dystrophy. Muscular dystrophy is a group of genetic disorders, leading to progressive muscle degeneration. People suffering from most common muscular dystrophies ,Duchenne/Becker (DMD), Myotonic (MMD), and Limb-Girdle (LGMD), experience muscles degradation overtime, leading to overall muscle weakness and decreased mobility. Statistics show that the most prevalent forms of muscular dystrophy are rare. For example in 2007 in the…
t is a generally accepted fact that young boys are active individuals. They are often depicted as rambunctious and mischievous, constantly jumping, running, and playing. However, for boys with Duchenne Muscular Dystrophy (DMD), this stereotype is not a reality. DMD is an abnormality found on the X-chromosome that deprives the body of dystrophin, a structural protein that maintains the structure of a muscle cell. DMD is the most common fatal genetic disorder identified in children, and is…
sometimes fall may also occur at this stage the boy began to study and / or behavioral difficulties. Between eight and eleven years old, the boy became unable to walk, realizing that the child's problem might be caused by a rare disease of Duchenne muscular dystrophy, and that he could do some reliable checks. All the sick boy's blood has an exceptionally high content of this kind of called creatine kinase. Most of the hospital's laboratory can do this check.…
and responsibilities. It is the intent of this paper to discuss the illness of Duchenne Muscular Dystrophy. Included will be information regarding the course of illness, stressful effects on the family unit, the role of the nurse, consumer groups to help families cope, and strategies to promote optimal wellness. Course of Ilness Duchene Muscular Dystrophy (DMD) is a rapidly progressive form of Muscular Dystrophy characterized by muscle weakness, wasting, and contractures in young boys…
called Duchenne Muscular Dystrophy (DMD). This is a disorder that is characterized by progressive muscle degeneration, and it is often found in males during childhood. Teagan was diagnosed with DMD at the age of 6. They started noticing differences in things that their younger son, Josten, was able to do that Teagan never did, so they asked the pediatrician at Teagan’s 6 year check up. The pediatrician had Teagan do a series of exercises and concluded that Teagan had some sort of Muscular…
Abstract Muscular Dystrophy may seem like a well known disease but in all actuality it isn't. There are three types of Muscular Dystrophy; Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Myotonic Muscular Dystrophy (Myotonic is then broken down into two other subcategories). Although each may be similar in some ways they are also completely different and each has their own level of severity. Treatments and outcomes stay rather similar but the symptoms and signs may differ quite a bit…
Elbert The first account of Muscular Dystrophy was in 1830. Sir Charles bell wrote an essay about a disease that caused weakness in boys. Six years later another scientist found two other boys that developed weakness, muscle damage, and damaged muscle tissue that was replaced with fat and connective tissue. 1850 more and more were reported in medical journals of having lost ability to walk, weakness, and death at an early age. Later on French neurologist Guillaume Duchenne found thirteen more…