Duchenne Muscular Dystrophy
Located on the X chromosome lies a gene whose improper function would take from us what we often sloppily overlook -- our mobility. The freedom to dance with poise, to run with agility, to dress one’s self, to bend over and scoop a dropped pencil off the floor are all motions which are only dreamt of by those with Duchenne Muscular Dystrophy. An X-linked recessive disorder which can be exhibited in both males and females, DMD is most prominent in males, affecting 3500 boys in the world (McKusick). DMD affects muscle -- skeletal, smooth, and cardiac -- by causing degeneration (McKusick). Diagnosis occurs around five years old, and by age ten, a wheelchair is often necessary for the patient. The skeletal
…show more content…
Sixty percent of patients with DMD have a dystrophin gene which holds a deletion (Bulman et al. 457). Another six to ten percent of patients have a dystrophin gene which contains a duplication of one or more exons (Bulman et al. 457). Along with these mutations, other mapping techniques have been used to distinguish further disruptions in the dystrophin gene which seem to cause DMD. Western blotting techniques have been used to identify nonsense mutations on the dystrophin gene (Bulman et al. 458). Polymerase chain sequencing has been used to find a mutation in exon 26 (Bulman et al. 458). Southern analysis revealed that another gene problem which leads to DMD is a premature chain termination, which results in a truncated dystrophin protein (Clemens et al. 1781). These are all mutations found in patients with DMD, which shows that there are various ways the dystrophin gene can be affected. Each of these mutations cause a problem in that they do not function correctly when coding for the protein dystrophin.
The malfunction of the protein dystrophin is responsible for the symptoms of DMD. If the dystrophin gene functions correctly, the normal allele codes for the production of the protein dystrophin (“NCBI”). This is a high molecular weight protein, and it is in .002% of the total proteins. Normally, the dystrophin protein functions inside muscle cells, providing structural support. It anchors parts of the internal
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 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).
Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles. When someone has this disease their muscles do not produce enough dystrophin to stay together. This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until further studies and research are done to find ways to cure this disease.
Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are
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).
Individuals who inherit this disease will have a rapid progression of symptoms. Walking becomes difficult and skeletal contractures and muscle atrophy follows. They also usually need wheelchairs by adolescence. Half of the receivers of the disease unfortunately develop some form of mental retardation and most never make it past their teenage years. Currently, options for a treatment of muscular dystrophy are limited. Physical therapy may slow down the progression of deformities. Such devices as wheel chairs, crutches, or secondary orthopedic limbs may permit mobility. There are also a few medications that can help relieve pain and stiffness in the muscles. The Muscular Dystrophy Association, the Parent Project Muscular Dystrophy Research and the Children's Hospital of Pittsburgh helped fund a research project for the disease. The research, carried out by Johnny Huard, Ph.D., is looking fairly successful. Scientists are isolating special
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 (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 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,
Genetics is a key factor in potentially developing a form of muscular dystrophy, as it is caused by a gene that protects muscle fibers suddenly becoming defective. However, this particular genetic mutation can abruptly occur while an embryo is still developing in the egg of the mother. Muscular dystrophy can occur in an individual of any age, sex, or race. The most common form of MD diagnosed, Dechenne, is most often found in males of a youg age. However, family history of the disease is the biggest risk factor associated with developing it.
Muscular Dystrophy is a genetic disease in which muscle fibers are usually susceptible to damage and cause muscle wasting and weakness. There are bundles of fibers that make up muscles; proteins are involved in these muscles and help to keep the muscle working properly. If
Even though the annual telethon is over, muscular dystrophy—all nine forms—still exists. MD presents with a combination of muscle weakness and muscle wasting.
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)
Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.
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."