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duchennes muscular dystrophy essay
duchenne muscular dystrophy essay
Duchenne’s Muscular Dystrophy case study
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Clinical Description – A child with Duchenne Muscular Dystrophy usually express symptoms before the age of 6, but can appear as early as infancy. Duchenne muscular dystrophy is a disorder that progressively increases with severity as the patient gets older. There are several symptoms involved in the disorder. Fatigue and muscle weakness our common symptoms. Muscle weakness usually begins in the pelvis and leg region and occur less severely in the arms and neck. As a result, a child with the disorder has trouble with motor skills like walking, running, jumping, skipping, etc. and progressively losses the ability to walk by age 12. With the deteriorating of muscle cells, breathing difficulties and heart troubles occur around the age of 20 and leads to death usually by 25. Intellectual disabilities and learning disabilities with a lower IQ than the average child is also common (MedlinePlus).
Molecular Genetics – Duchenne muscular dystrophy is located on the X chromosome, with more than 1,000 mutations to the DMD gene. The DMD gene is the largest known human gene. The normal function of ...
Symptoms can appear at any age normally between infancy and age six. Normally, the first symptom of duchenne muscular dystrophy is a delay in milestones that normal children have. For example, there may be a delay in when a child with DMD learns to walk, sit or stand by themselves. Children without duchenne muscular dystrophy normally begin to learn to walk at around nine to twelve months, and can walk well around fourteen to fifteen months. Parents and doctors become concerned after sixteen to seventeen months. However, the average age that a child with duchenne muscular dystrophy begins to walk is eighteen months. In muscles in the legs and pelvis, there is progressive weakening and wasting. There is also a little weakness found in the neck, arms, and other upper body muscles, but the weakening in worse in the lower half of the body. Muscles weaken by enlarged muscle tissue being replaced by connective tissue and fat. Muscle fibers then shorten due to the r...
The symptoms usually appear before age 6. In most cases, the first visible symptom is the postponement of sitting and standing independently. The average age for walking in boys with Duchenne muscular...
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)
Symptoms: Up to the age of 1-3 years, affected boys have normal muscles that is they learn to stand and walk later than they are supposed to do and speech may be slow in development. Gowers sign is a sign that can be seen in boys. Hypertrophy of the calf muscles is also a characteristic sign of DMD (Alan E H Emery., 1998). Contractures at the knees and elbows are common and it will lead most boys to use wheelchairs by the age of 10, and end them dead before or at the age of 20. The commonest cause of death is cardiac muscles involvement that will lead to cardiac faliure and subsequentl to respiratory failure (Pryse-Phillips, William E. M. and Murray, T. J., “ A concise textbook Essential Neurology”. 4th ...
Spinal Muscular Atrophy affects about 8 out of every 100,000 live births and also causes death among more babies than any other genetic disease out there. About one in every forty people has this gene in them but may not have SMA so they are a genetic carrier. But in order for a child to have SMA, both parents have to carry the mutated gene and passed it to the child. Therefore this causes the child to have double copies of the abnormal gene. About 1 in 40 men and 1 in 80 women are carriers of the gene.
Muscular dystrophy refers to, not one, but a group of muscle diseases. These diseases have three features in common: they are hereditary; they are progressive; and each causes a characteristic and selective pattern of weakness. Duchenne muscular dystrophy (DMD) is the most prevalent and severe childhood form of this group of diseases.
Muscular Dystrophies are genetic disorders that are distinguished by degenerative muscles and weakness in the muscles. Duchenne muscular dystrophy is a dominant sex-linked disorder that mostly affects males, and it affects one in 3,500 males (Furlong, 2015). Males inherit Duchenne Muscular Dystrophy when they get an X chromosome (they inherit the chromosome from their mother) with a mutated dystrophin gene. Since males only have one X-chromosome (males have XY, females have XX), they are more vulnerable. If a female inherits only
Duchenne muscular dystrophy, also known as DMD, the most common type of muscular dystrophy, is caused by the incorrect information with the gene that generates a protein called dystrophin. The function of this protein is to help muscle cells keep their strength and shape. Without the presence of this protein, muscles begin to deteriorate and a person’s health becomes weaker. Duchenne muscular dystrophy is one of the types that affect boys, and symptoms of the disease begin to show between the ages of two and six. Most children with duchenne muscular dystrophy will require transportation by wheelchair by the age of ten or twelve. Patients with duchenne muscular dystrophy may experience heart c...
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Muscular Dystrophy (MD) is a disease that weakens the musculoskeletal system and affects the ability to move. MD also affects groups of muscles. In the 1860’s it was described that boys were progressively growing weaker, losing the ability to move and died at an early age. A decade after the first description a French, neurologist named Guillaume Duchenne gave account for thirteen boys with the most common and severe forms of Muscular Dystrophy. MD is being caused by a mutation of a gene within the X chromosome, and affects predominately males. Most MD are multisystem disorders and can affect other body systems that include the heart, gastrointestinal, nervous system, endocrine glands, eyes and brain. There are over 50,000 people in the United States that are diagnosed or living with muscular dystrophy.
The most typical symptom that appears is the delay of motor skills and milestones amongst children, such as standing and sitting on their own. There is the degeneration of the muscle along with progressive muscle weakness of the legs and pelvic muscles, which is associated with a loss of muscle mass called wasting. This muscle weakness causes a wobbling, unsteady gait and difficulty climbing stairs. Muscle weakness also occurs in the arms, neck, as well as other areas, but not as severe as in the lower half of the
symptoms are not noticeable until the person with the disease reaches their middle years, approximately 30-50. The disease progresses rapidly once the first signs start showing. Within years the symptoms will get severely worse and the person’s quality of life will drastically decrease. Some of these symptoms include uncontrollable body movements, loss of mental stability, and loss of the ability to think. In the later years of the person’s life they will need assistance wit...
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.