What Is The Duchenne Muscular Dystrophy?

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

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.

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

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.

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 work to bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctional form of dystrophin (Pierce, 2013, pg. 286). According to the Muscular Dystrophy Association (2016), “Individuals with DMD experience rapid progressive

DMD is an X-linked recessive chromosomal that affects 1 in 5,000 males (Yiu and Kornberg). DMD rarely affects females and when they are affected the severity of the disease is much milder than the male cases (Bushby, Finkel and Birnkrant). The mother is the carrier of the DMD gene in 2/3 of cases and can be genetic. The remaining 1/3 of cases are spontaneous mutations that occur in the mother’s egg (Wong, McClaren and Dalton). Males have a 50% chance of inheriting the mutated gene from their mother and presenting with DMD, daughters have 50% chance of inheriting the gene and being a carrier (carriers may not show symptoms but can pass the mutated gene on to their offspring). Fathers cannot pass the gene on to their sons but will pass it on to their daughters (The Muscular Dystrophy Association). The mutation in the DMD gene disrupts dystrophin production. Dystrophin is a protein that is responsible

Prior to the 1980s, there was minimum knowledge relating to the causes of muscular dystrophy. However, in 1986, researchers discovered a gene, soon to be named dystrophin, on the X chromosome. The gene, when mutated, reacted by causing Duchenne muscular dystrophies. During 1987, the protein in relation to the gene discovered a year early was officially classified and named dystrophin. Duchenne Muscular Dystrophy (DMD) develops due to the mutated gene failure to supply active dystrophin. This minimum amount of dystrophin affects the body by developing muscle damage and continued weakness from early life.

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

DMD is caused by a mutation in the X-linked dystrophin gene, which results in a dysfunctional dystrophin protein. Dystrophin is a cytoskeletal protein that provides mechanical stability to muscle cells by connecting the muscle sarcolemma to the basal lamina of the extracellular matrix (ECM), and without it there, the muscle cells typically undergo a process of degeneration and regeneration. This process is limited by the survival of satellite cells present since satellite cells can only undergo mitosis a limited amount of times. Sarcolemma instability typically results in excess intracellular amounts of both sodium and calcium, which causes ATP depletion and mitochondrial uncoupling (Horn & Schleip, 2012). Satellite cells only have a limited number times they can undergo mitosis, and once a patient can no longer generate healthy muscle cells, the patient will typically experience cell death. This cell death and necrosis usually

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,

As a whole, muscular dystrophy is a group of many different diseases causing muscle weakness and muscle loss in skeletal muscles that control movement of the body (Korschun, 2007). Each distinction of this genetic disease may affect different muscle groups and even have different symptoms. One thing these diseases have in common is that the person affected will lose more and more muscle as they age. Currently, there is no cure for muscular dystrophy but there is treatment that may help alleviate the pain and slowing the disease down (Muscular Dystrophy, n.d.).

Duchenne Muscular Dystrophy, referred to as DMD, is the most severe form of all muscular dysrophies. It is rapidly progressive and occurs primary in boys. DMD is caused by a recessive mutation in the X chromosome. It can be inherited by either parent however, it can also be present with no family members having the mutation. DMD is caused by a lack of dystrophin. Dystrophin is a protein found in muscles that enables the muscle tissues to repair themselves.

Muscular dystrophy (MD) is the progressive weakening and deterioration of the skeletal muscles controlling movement. There isn’t only one type of this disease; MD is a group of over 30 genetic diseases. The diseases differ in many ways. Age of onset may be seen in infancy and childhood, or develop during teenage years through later in life. Types of MD differ in muscle distribution and extent of weakness, and rate of progression. Duchenne MD, as in James’ case, is the most common form. It’s primarily found in boys, and is caused by the absence in dystrophin. Dystrophin is an important protein in the structure of muscles, and is the largest known human gene. This is a rapidly progressing disease after an onset of three to five years. Most boys affected by Duchenne MD are unable to walk before their teenage years, and eventually need a respirator to breathe as the diaphragm begins to degenerate. Facioscapulohumeral MD develops in teenage years, progressively weakening muscles of the face, arms, legs, shoulders, and chest. The symptoms can be less harsh, but have the capability to be disabling. Prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances are the primary effects of Myotonic MD. This form is the most common in adults, and its sufferers have long, thin faces with drooping eyelids, and a long swan-like neck. These are only three of the over 30 forms of MD, but also the most common types in their respective age of onset.

Muscular dystrophy is a genetic disorder that causes progressive deterioration of muscles. This essay is going to focus on Duchenne Muscular Dystrophy (DMD) as it is the most common type of muscular dystrophy in Australia and throughout the world. It is also one of the most severe forms, with many patients in wheelchairs by their mid-teens (Muscular Dystrophy Foundation, 2014). It is estimated that DMD affects 1 in 5000 boys and patients will present with symptoms around the age of 4. Patients may have a range of symptoms including; motor delays, abnormal walking, difficulty getting off the ground, frequent falls and learning difficulties. Eventually DMD can manifest into cardiac and respiratory problems (Yiu and Kornberg, 2015).