Duchenne Muscular Dystrophy Research Paper

Going to School with Duchenne Muscular Dystrophy
Emelia O. Jeffrey
Family Practice Health Care II
NUR/573
November 11, 2014
Frances Dunniway

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Going to School with Duchenne Muscular Dystrophy
Duchenne muscular dystrophy also known as DMD is a rare genetic condition that could affects all race and cultures; mostly boys. Duchenne muscular dystrophy affects 1 in 500 boys in approximation. According to muscular dystrophy association 20,000 children are born with DMD worldwide and approximately, 35% are as a result of spontaneous genetic mutation (2014). The disease is an X-linked recessive inheritance that the mother passed it on. DMD has a progressive muscular degeneration and weakness and it is one of the nine types of muscular
dystrophy diseases. The disease progression is quick unlike other muscular dystrophy disease (like Berker’s muscular dystrophy) where the procession is much slower. With DMD, there is an absence of muscle protein that keeps the cells of the muscle intact. This protein is called dystrophin. Onset of symptoms is between the ages of 3-5 years. It also occur in people without any known family history.
Phases of Duchenne Muscular Dystrophy
DMD has four phases of the disease progression. The first phase is the early phase that start from the time of diagnosis up to age seven years. The second phase is the transitional phase, which starts, approximately, from the age of 6-12 years where the student will have difficulties with ambulation as the quadriceps muscles starts to deteriorate. These individuals in this phase are prone to falls. The third phase is between the ages of 8-14 years where there is paralysis or loss of ambulation. Mode of transportation will be wheelchair due to inability to walk. An adulthood age of 15-plus years is considered the fourth phase of DMD. At this phase, the individual begins to experience life-threatening conditions such as respiratory failure and cardiac arrest, which becomes tragic and death is eminent at this phase of the disease.
Characteristics of Duchenne Muscular Dystrophy
DMD has peculiar characteristics that starts to be prominent at the early phase of the disease before the age of 6 years. Children with DMD have fatigue, learning difficulties. The child’s intellectual disability does not get worse over time. Muscle weakness includes shoulders and arms held back awkwardly when walking, sway back, weak buttock muscles that leads to hip straightening, abdomen sticks out due to weaken muscles. The individual may also have thin, weak thighs; poor balance, frequent falls, patient is awkward clumsy if walking, knees bend back to take weight, thick lower leg muscles, heel tendons becomes apparent with contractures, and foot drop. This muscle weakness gets worse quickly. The child will have motor skills problem such as jumping, hopping, or running.
Limitations and Challenges Limitations and challenges are bound to happen with new diagnosis. Having a child to go to school for the first time present concerns especially where the complexity of the disease is not well understood. Another limitation is lack of information and/or resources available. During the early phases of DMD, movements are labored as the calf muscles are enlarged. There is difficulties from sitting to a standing position due to leg muscle weakness. Boys affected with Duchenne are at risk for difficulties with language processing. This leads to poor receptive language, which is characterized by delay in the process of information and instructions as well as difficulty with self-expression. Such individuals tends to have problems with impulsivity, emotional control, and mental adoptability. The intelligence quotient ranges from mild retardation to the superior. It is therefore apparent to keep in mind that these challenges are not as a result of stubbornness, laziness, or some other character flaws, but rather related to cognitive weakness. These challenges can be overcome by involving other people of the same age in brainstorming and decision-making, considering it a lesson in life and problem-solving. This result in understanding and empathy among others.
Diagnostic Tests A thorough neurological and muscular examination need to be done for early diagnosis and treatment of life-threatening conditions such as cardiomyopathy, congestive heart failure, scoliosis, pseudohypertrophy, muscle wasting, pneumonia, and other respiratory disorders.
Diagnostic tests may include electromyography, genetic tests, muscle biopsy, and serum creatine phosphokinase.
Treatment for Duchenne Muscular Dystrophy Duchenne muscular dystrophy has no cure, hence treatment focuses primarily on the underlying symptoms. Essentially, medical treatment includes administration of albuterol, amino acids, carnitine, coenzymes Q10, creatine, fish oil, green tea extracts, and vitamins. Other treatments to help minimize life-threatening conditions includes assisted ventilation, angiotensin-converting-enzyme inhibitors, beta-blockers, diuretics, proton pump inhibitors, and orthopedic appliances.
More research should be geared towards the use of stem cells and gene therapy. These individuals need to be active often to help maintain the strength and function of the muscles. Physical therapy, speech therapy, and occupational therapy are used in the school settings during physical
education.

Medication Administration in the School The superintendent or designee develops processes for medication administration by the school nurse or the unlicensed district employee under the Disability Education Act or Section 504 of the Rehabilitation Act of 1973 (Alvord Unified School District, Riverside, California, 2012) The parent or guardian of the student may choose to administer the medication personally or may designate another individual to administer the medication; such individual should not be an employee of the school.
In an emergency situation, an unlicensed, trained personnel may administer the medication. The school uses a checklist to keep track of the medications and therapy the student receives. The school authorities notify the parents or guardians of medication regime for a non-episodic condition. In case of an emergency or contingency care, parents are requested to have a plan for the student for continuity of care. Such plan may include medication list, advance directives, medical history of the student, and emergency contact number.
Conclusion Duchenne muscular dystrophy is a fatal condition and shortens life by age thirty. There is no cure and cut across all race and cultures. Improvement in treatments of the underlying symptoms have increased the life expectancy of the DMD patients from 20’s to 30’s. There is still the need to improve treatment, quality of life, and long-term outlook for all individuals affected by this disease through research, education, advocacy, and compassion.

References
Alvord Unified School District (2012). Item 15.: Review Proposed Revisions to Board Policies and Administrative Regulation: Administrating Medication and Monitoring Health Conditions. Riverside, CA.
Council for Exceptional Children (2014). The Voice and Vision of Special Education. Retrieved November 11, 2014, from http://www.ideapractices.org/
Muscular Dystrophy Association (2014). Fighting Muscle Disease. Retrieved November 11,2014, from mdausa.org
Parent Project Muscular Dystrophy (PPMD) (2012). A Resource for parents of children with Duchenne muscular dystrophy. Retrieved November 11, 2014, from parentprojectmd.org/resources/index.html
U.S. Department of Education. (2014). Office of Special Education Programs and Rehabilitative Services. Retrieved November 11, 2014, from http://www2.ed.gov/about/offices/list/osers/osep/index.html