Taking a Look at Muscular Dystrophy

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.

Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of

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

Muscular dystrophy can negtively impact muscles in the body by disrupting strength, structure, and signaling. MD can also have adverse effects on the nervous, repiratory, and immune systems by leading to impairments such as learning disabilities, heart complications, and

Duchenne Muscular Dystrophy (also referred to as DMD) is a type of muscular dystrophy that weakens the muscles that we need to support our body, body weight, to stand, and to move around. It also can cause you to have scoliosis. Some of the main causes for DMD are genetic disorders, mutations, and DMD has to be passed down throughout everyone in that family for generations. The symptoms you can have if you have DMD are weak muscles, lack of strength, and difficulty walking. DMD is a negative mutation because it affects your muscles horribly bad that you can get a disability of walking and even moving. You need to tell your doctor immediately if you experience any symptoms. If you don't tell your doctor, you may find yourself in a very difficult situation where you can't get up or can't get something you need. When you do talk to your doctor, you will have an advantage of getting the help you need.

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 the lower limb.

Currently, there are 9 major forms of muscular dystrophy which include: Myotonic, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss, and Duchenne muscular dystrophy (Mayo Clinic, 2014). For the purpose of this paper, the cause, as well as the impact of Duchenne muscular dystrophy on development, will be discussed.

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.

Muscular dystrophy (MD) is a group of genetically transmitted diseases characterized by progressive symmetric wasting of skeletal muscles without evidence of neurologic involvement (Lewis, 2011). There are four different types of muscular dystrophy. The four types are Duchenne, Becker, Landouzy-Dejerine, and Erb. Duchenne muscular dystrophy is the most common type among children. It only affects boys; it’s passed down from the mother. Duchenne muscular dystrophy is created from X-linked recessive gene from the mother. About one in thirty-five hundred boys are born with Duchenne muscular dystrophy. The boys will experience weakening of the muscles, wasting and contractures and inability to walk by themselves by the time they even reach

Therefore, I'm gonna talk about the causes, the common types and the treatments for the Muscular Dystrophy.

When looking at a potential therapy or cure, it is important to recognize exactly how the disease affects the body. Duchenne Muscular Dystrophy (DMD) is one of the most severe myopathies, or muscle diseases (Cacchiarelli et al). To be diagnosed with DMD, a patient must have a mutation in the dystrophin gene present (Muscular Dystrophy Association). Moreover, that mutation in the gene is what causes the lack of dystrophin synthesis. Dystrophin is protein in the body that keeps the muscles intact (Muscular Dystrophy Association). Therefore, a lack of dystrophin causes the muscles to deteriorate; which is identified as dystrophy. When the body lacks strong healthy muscle, it does not only become weak; the body itself begins to shut down. Our organs depend on the muscles that allow us to walk, eat, and breathe to provide energy, nutrients, and oxygen. For this reason, DMD eventually leads to a short life.

The coexistence of the uncommon disease known as Duchenne Muscular Dystrophy or DMD, has come to the attention of many and has manifested within this document to generalize the history, impact, and significance of the disease. The history of DMD stemmed from the progressive muscular dystrophy of two 10-year-old boys names Conte and Gonji in 1836. Since this becoming the first historical account of such a disease, many doctors and specialists speculated a more catastrophic form of tuberculosis; when revisited by scientists it was concluded that they suffered from the milder Becker MD. In 1852, Meryon reported in striking points of interest a family with four young men, every one of whom were influenced by huge muscle changes, however had no

Duchenne muscular dystrophy has a worldwide distribution, with a mean incidence of 1 per 3,500 male births (Clinical Pediatric Neurology, Pg. 180). The children lead a life ridden with difficulty and physical pain. While kids their age are seen running around playing, these boys rapidly loose functional use of their limbs. There are also many other problems associated with muscle wasting. To be sure that the child has the disease a muscle biopsy is usually done to check for dystrophin levels and confirm that the child does have DMD and not another disorder. Deterioration of

The topic I am researching today is called muscular dystrophy. They’re many forms of muscular dystrophy. For example like there is Duchenne, Becker, Myotonic, Congenial, Limb-girdle, facioscapulohumeral, distal, oculopharyngeal, and emery-dreifuss. The main common thing all those muscular dystrophy have in common are that all of them cause weakness to the bones.

One such disease that this paper will be focusing on is known a Muscular dystrophy more specifically a severer case of this disorder known as Duchenne muscular dystrophy (DMD). It is in the group of disorders characterized by a pathological swelling of skeletal muscles caused by the mutation in the DMD gene, located on the X chromosome. It is the most prevalent form of this disease, occurring early in life and affecting nearly one million boys worldwide (Panno, page 11).