Muscular Dystrophy In Life

Duchenne Muscular Dystrophy is also the most common type of muscular dystrophy in kids, children who are affected by the disease will most likely be in a wheelchair by the time they are 12, and are likely to die anywhere from their late teens to early twenties ( Yiu and Kornberg, 2008, p. 236).

Duchenne Muscular Dystrophy is the most common muscular dystrophy disorder. In the United States DMD affects 1 in 3,500 males. 2/3 of those cases are passed down for the mothers and 1/3 are random mutations. Internationally the statistics are similar. (Medscape, 2015)

Becker muscular dystrophy (BMD) is very similar to DMB in that it also just affects boys and shares some of the same symptoms like weakness and muscle breakdown but the symptoms are less intense and may start later in life. Sometimes the symptoms are not present until the age of ten or into adulthood. Those diagnosed with BMD can have all of the same symptoms as DMB but many people with this disease live long and active lives without the use of a wheelchair.

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 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).

Since DMD is an inherited X-linked recessive disorder, males who gain the mutated gene on the X chromosome are affected, whereas females have two X chromosomes, in this case the chromosome without the mutation will compensate. Individuals are usually diagnosed with this very aggressive disorder in childhood. As I grow in my profession here at Kaplan, I am educated on the importance of providing care that is focused around the patient, which aspires me to offer compassionate care. I find it very unfortunate that children are affected by many disorders and diseases that are fatal. Most children with terminal diseases have a limited time to experience blessings in the world, which gives me the desire to be a blessing to them. Ultimately, I would like to become a Pediatric Nurse, making this disorder

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.

(Chad Haldeman-Englert, 2014) The symptoms usually appear before age 6 and may appear as early as infancy. One of the first noticeable symptom of this disease is the delay in motor milestones; many with Duchenne will take longer to independently stand, sit or walk than average child. (National Human Genome Research Institute, 2013) In toddlers, their enlarged calf muscles causing them to frequently fall over whilst moving. The child may experience occasional pain in the calves and may have some difficulty raising their arms. There is a steady decline in muscle strength between the ages of 6 and 11 years. Most boys are confined to a wheelchair by the age of 12. Muscular weakness and skeletal deformities often leads to respiratory issue. The diaphragm and other muscles that operates the lungs may start to weaken, making it hard to circulate fresh air into the body. The risk of serious respiratory infection is very high. Cardiomyopathy, a chronic disease of the heart muscle that is often a result of the DMD. Most boys will develop this heart disease in their early teens. One third of boys with DMD have some degree of learning disability. Majority of their learning problems occurs in focusing, verbal learning and memorising, and personal interaction. (The Muscular Dystrophy Association (MDA), 2016) Some of the symptoms, such as respiratory infection and cardiomyopathy are common causes of death in DMD

Duchenne muscular dystrophy (DMD) is one of many types of muscular dystrophy disorders, which affect the muscle fibers. It is the most aggressive form of muscular dystrophy. The muscle fibers gradually become weaker and incapacitate the affected individual. “DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males (NCBI, 2014).” Males are more susceptible to inherit this disorder because DMD is passed on through the X chromosome. Women can be carriers of the disorder without any adverse affects. The female carrier has a 50% chance of passing on this trait to an offspring. It is extremely rare that a female will have DMD. Symptoms of this disorder include muscle weakness that starts at the legs and progresses at a fast rate though out the body. The rapid progression of muscular dystrophy means that the inflicted individual will eventually be confined to a wheelchair in their life time. “Wheelchair dependency had a median age of 10 years (OMIM, 2013).” Other symptoms include degraded motor skills as well as learning disabilities. As muscle mass diminishes the individual suffers from heart and lung complications eventually leading to the persons’ death. “Death occurred at a median age of 17 years (OMIM, 2013).” The X-linked inherited disease is cased by a mutation in the DNA segment of the X chromosome in the DMD (P11532) gene. This

The ability to walk is something that our society seems to take for granted. A neuromuscular disease can take that ability away instantly. As with any neuromuscular disease, the body’s muscles are specifically attacked. Normally that attack is caused by a lack or mutation of a specific gene. Duchenne Muscular Dystrophy (DMD) has a direct relationship with a lack of dystrophin synthesis. It is possible that the dystrophin synthesis can be increased by manipulation of microRNA-31.

However, the disease progresses to the point that the children have difficulty rising from the floor and have an obvious waddling gait. This decline in motor strength remains linear. The symptoms accentuate themselves between the age of 3 and 8. On average, functional ability declines rapidly after age 8. By their 9th year some become confined to the wheelchair and by their 12th year most cannot remain ambulatory (Clinical pediatric neurology, Pg. 182). Other symptoms include large and rubbery calf muscles and in Duchenne muscular dystrophy an IQ that is significantly lower than the average, the mean IQ of affected children being of only 85. More importantly the pelvic weakness that prevented them from rising from the floor can increase to such a degree that breathing becomes difficult and some patients can die of chocking.

Muscular dystrophy is a hereditary condition marked by progressive weakening and wasting of the muscles. The main sign of muscular dystrophy is progressive muscle weakness. Specific symptoms start at different ages and in different muscle groups, depending on the type of muscular dystrophy. This disease can appear in infancy up to middle age or older. There are 9 major types of muscular dystrophy. Myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal, and emery-dreifuss. The diagnostic of muscular dystrophy can be found through a physical exam, family medical history, and tests. Furthermore, those include muscle biopsies, DNA testing, nerve conduction tests, and blood enzyme tests. Muscular dystrophy

Duchenne: This form is the one in which is found to be the most common in children. Duchenne muscular dystrophy is known to only affect the males and can appear between the ages of 2 to 6 years. Muscles can decrease in size and grow very weak over time and may appear to be larger than usual. In all cases the disease progression varies, however those with Duchenne may be in a wheelchair by the age of

Fist case of Duchenne Muscular Dystrophy (DMD) appeared in 1836 Conte and Gioja described 2 boys with chronic muscle weakness and these boys later developed weakness and hypertrophy of multiple muscle groups (Duchenne, 2015). At the time little was known about DMD and due to the lack of evidences to support his claim and that many scientists thought that Conte and Gioja was describing tuberculosis; therefore they did not receive credit for their work (Duchenne, 2015). Years later, a French neurologist, Guillaume Duchenne will know for his work in faradism and his understanding of muscle disease evaluated 13 boys with DMD and he notice that the muscle tissue loss in the calf is replaced by fat making it look bigger than normal. (Duchenne, 2015).

Spinal Muscular Atrophy, also referred to as SMA, is an incurable autosomal recessive disease caused by the mutation or deletion of the survival motor neuron 1(SMN1) gene located on chromosome five. This illness is the number one cause of infant death from a genetic disease. The disease is researched and studied heavily in the hopes to find an approved treatment and cure for the disease. With that being said, any discoveries on the disease are very important. In ones research of SMA, key features of the disease must be discussed in great detail. The cause of SMA, the symptoms, the diagnosis, the progression of the disease, impacts of being the victim of SMA , any possible treatments (if there are any), and the support that is provided for families of the patient (if support is provided or not) are all important aspects of the research. Prior research on the topic must also be considered when discussing the disease in order to understand SMA.