Muscular De Duchenne E Uma Doenca

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

According to the " Muscle Diseases" by Patrick F.Chinnery in the Goldman's Cecil Medicine, 24th Ed 2012, "Duchenne Muscular Dystrophy affects about 1 in 3500 males. About one third of the cases arises from a de novo mutation without a family history."

Duchenne Muscular Dystrophy is a disease which causes skeletal muscle to waste away, this wasting of muscle is caused by a mutation of the dystrophin gene (Meregalli et al., 2013, p. 4251).

Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are

Duchenne muscular dystrophy is a gender-linked inherited disorder. To illustrate, males only have one X chromosome, therefore they do not have a second X chromosome to make up for the damaged gene. Females can only become carriers of the disease, as females have a second X chromosomes to make up for the damaged gene.

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

Each strain of muscular dystrophy is created by a genetic mutation distinct to that type. Duchenne’s has an absence of dystrophin, a protein that aids in keeping muscle cells together. Most of the mutations in the genes are inherited; some happen randomly in the mother’s egg (oocyte) or the developing embryo. Also, the mutations are able to be passed to the next generations.

Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth

Duchenne’s muscular dystrophy (DMD) is a progressive genetic disorder that leads to muscle atrophy and eventually death. Diagnosing DMD consists of blood tests, genetic testing, and muscle biopsies. Signs and symptoms begin presenting in toddlers with DMD and progressively worsen throughout life. There is no cure for DMD, and will cause terminal cardiopulmonary complications. Medical interventions consist of corticosteroid treatment, respiratory management, cardiac management, psychological management, and physical therapy interventions.

Duchenne muscular dystrophy is a severe and often times fatal X-linked genetic disorder for which there is no cure; however, treatment can alleviate symptoms (Wood, Straub, Guglieri, Bushby, & Cheetham, 2015). Although muscular dystrophy is generally inherited, about one-third of cases arise as a “sporadic” mutation in an individual’s genes. Due to the disease’s X-linked nature, it is

Duchenne muscular dystrophy (DMD) is caused by a mutated gene in the X chromosome. This flawed genes is passed on by the mother. However, most carrier of the gene do not show signs or symptoms of the disease. The The flawed gene causes the improper production of the protein dystrophin which is accompanied by “defective dystrophin-glycoprotein complex (DGC) in the sarcolemma and leads to progressive muscle degeneration” (Nakamura & Takeda, 2011). The Dystrophin protein is vital in providing a muscle integrity. Therefore, the absence of dystrophin production can lead to muscled atrophy.

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 (Bushby, 2009, pp.1). According to the Muscular Dystrophy Association, symptoms usually begin to show between the ages of 3 to 5 years old. (pp. 1) Some of the symptoms may include delayed in walking, regularly falling, learning difficulties,

Muscular dystrophy is a rare disease. 349 out of 2.37 million males aged between five and twenty-four had Duchenne or Becker muscular dystrophy in 2007. Males are more likely to be affected. It is very rare for females to have the disease.