Muscular Distrophy - Research Paper Example

Muscular Dystrophy: A Comparative Analysis Introduction Muscular dystrophy is ified under the musculoskeletal disorders which compromise the afflicted body’s ability to protect vital organs, support weight, effectively control motion, store needed minerals and ensure an appropriate supply of red blood cells. According to London, Ladewig, Ball & Bindler (2007, 1762), “bones provide a rigid framework for the body, muscles provide for active movement, and tendons and ligaments hold the bones and muscles together. Alterations in musculoskeletal functioning, therefore, can have a significant impact on a child’s growth and development”. The National Institute of Neurological Disorders and Stroke (NINDS) has defined muscular dystrophies (MD) as “a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance” (NINDS, 2010, par. 3). There are various types with corresponding clinical manifestations and therapy for MDs. In this regard, the essay aims to compare and contrast, one particular type, the Duchenne MD with another type, the Facioscapulohumeral MD. The causes, pathology and treatment would be discussed and evaluated in light of the two identified MDs. Duchenne MD The Duchenne MD is considered the most common form of MD afflicting children, identified to occur in 1 out of 3,500 live male births (London, et.al. 2007, 1791). This type of MD, likewise known as pseudohyperthophy “refers to enlargement of muscles as a result of their infiltration with fatty tissue” (London, et.al. 2007, 1791). The disorder usually appears within the first three to four years of the child’s development. In a research conducted by Bogdanovich, et.al. (2005), the authors averred that “DMD is characterized by progressive and severe muscle loss that leads to loss of ambulation, with those affected often becoming wheelchair dependent toward the end of the first decade of life. The disease is caused by mutations in the DMD gene resulting in quantitative and/or qualitative disturbances in expression of the gene product, dystrophin” (par. 1). The symptoms for Duchenne MD include any or a combination of the following: “fatigue, mental retardation (possible, but does not worsen over time), muscle weakness, and progressive difficulty walking” (NINDS, 2010, par. 5). Medical information has not found any cure for DMD at present except supportive care using physical therapy and braces or wheelchairs which would help maintain mobility and assist in the prevention of contractures. In a recent medical study, however, made by Barclay (2005), she identified “intermittent steroids are beneficial for patients with Duchenne muscular dystrophy (DMD)” (par. 1). The findings reveal that “Deflazacort, a corticosteroid resembling prednisone in structure, produced similar improvements in muscle strength and function and was associated with similar adverse effects” (Barclay, 2005, par. 15). The prednisone treatment was instrumental in slowing down the deterioration of functions of the muscles. Constant activity is thereby recommended to ensure frequent muscle use and function. The early pathology of DMD appears below: Necrotic muscle fibers: Grouped Phagocytosis: Invasion of fibers by macrophages Necrotic muscle fibers are pale on NADH stain Source: Neuromuscular, 2005 Facioscapulohumeral MD (FSHD) Another type of MD is the Facioscapulohumeral MD (FSHD), also known as the Landouzy-Dejerine disease, “affects muscles of the face (facio), shoulders (scapulo), and upper arms (humera) with progressive weakness” (NINDS, 2005, par. 30). It is identified as a genetic disorder which can appear in both male and female who can subsequently pass the disorder to the child, if either parent carries the gene for the disorder. It can occur in later childhood with instances appearing in adulthood. According to Shripathi (2010), “FSHD is caused by a deletion of D4Z4 macrosatellite repeats in the subtelomeric region of the 4qA161 haplotype of chromosome 4. Those without FSHD have approximately 11-100 D4Z4 units, whereas patients with FSHD have 1-10 D4Z4 units. At least 1 copy of D4Z4 is required to develop FSHD” (pars. 4 – 6). The manifestations, aside from muscle weaknesses in the upper body, are: inability of the arms to be raised above the head; drooping of the eye and inability to close them; facial movement restricted causing inability to whistle, smile, drink from a straw, and pronounce words, among others. When the disorder progresses, the lower limbs can be affected causing difficulty in walking. In addition, as stated in NINDS discussion on FSHD, “in some individuals, muscle weakness can spread to the diaphragm, causing respiratory problems.  Other symptoms may include hearing loss (particularly at high frequencies) and lordosis, an abnormal swayback curve in the spine. Contractures are rare. Some FSHD patients feel severe pain in the affected limb. Cardiac muscles are not affected, and the pelvic girdle is rarely significantly involved. An infant-onset form of FSHD can also cause retinal disease and some hearing loss” (NINDS, 2010, par. 30). Further, it was likewise proffered in NINDS (2010) that, “there is no specific treatment that can stop or reverse the progression of any form of MD. All forms of MD are genetic and cannot be prevented. Treatment is aimed at keeping the patient independent for as long as possible and preventing complications that result from weakness, reduced mobility, and cardiac and respiratory difficulties. Treatment may involve a combination of approaches, including physical therapy, drug therapy, and surgery” (par. 60). Accordingly, the goal of a medical practitioner in addressing FSHD is to prevent the development of complications and to reduce the onset of early death. It is likewise advised that patients with the disorder must ensure regular and frequent exercise to retain muscle function and slow down the weakness in muscle progression. Illustrations of Adult FSHD Source: Neuromuscular, 2005 ATPase pH 9.4 stain, Patient 1 Large fibers are type I & II; Small fibers are type I & II Source: Neuromuscular, 2005 Comparative Analysis 1. Differences The Duchenne MD is the most common form of MD while the Facioscapulohumeral MD (FSHD) is the third most common from among the MDs. The DMD occurs predominantly in males with onset ages at early childhood, between the ages of 3 – 4 years old; while FSHD could occur in both male and female, with onset during late childhood to adulthood. In addition, DMD afflicts the lower limbs more while FSHD affects the upper limbs generally. Finally, as indicated by London, et.al, (2007, 1790), under DMD, “most children are wheelchair bound by 12 years of age; death usually occurs during adolescence from respiratory or cardiac failure; (while FSHD) manifests “slow progression; confined to wheelchair as older adult, but usually attains normal life span”. 2. Similarities As both are forms of MD, the treatments for both are basically the same, i.e. focusing on exercising the muscles to retain as much function as possible with focus on supportive care, physical therapy, braces, and when needed, surgery. According to NINDS (2010), there are various researches being conducted in view of finding treatment for MDs. Among those that -were noted are: drug-based therapy to assist in slowing the degeneration of muscles, enhancing repair mechanisms for muscles naturally, cell-based therapy, and gene-based therapy, among others. Finally, London, et.al. (2007) averred that “the team approach to managing the child with MD ensures a comprehensive management plan. Team members should include physicians (pediatricians, orthopedics, surgeon, neurologist), nurses, physical and occupational therapist, a nutritionist, and a social worker” (1793). The support of all health care practitioners concurrent with those of the child’s parents and relatives are critical in the patients’ holistic care and management of the disorder. Conclusion Muscular dystrophies occur anywhere in the world and can afflict any people regardless of race. However, the disorder has shown predisposition for children, and depending on the type, afflicts a particular gender more. The essay was successful in achieving its objective of proffering a comparative analysis of the Duchenne MD, as the most common form, and the Facioscapulohumeral MD, considered third in this disorder. There had been identified differences in terms of manifestations, onset, afflictions as to gender and age. However, since there has not been any definitive treatment for MDs in general, the most that health care practitioners can do to deliver appropriate care is to focus on encouraging the sustainability of muscle function for independence and mobility through constant activity and through physical therapy. Reference List Barclay, L 2005. “Intermittent Steroids May Benefit Patients With Duchenne Muscular Dystrophy.” Medscape [Online], Available at: http://cme.medscape.com/viewarticle/497270 [Accessed 20 October 2010]. Bogdanovich, S, Perkins, KJ, Krag, TOB, Whittenmore, LA & Khurana, TS 2005, “Myostatin propeptide-mediated amelioration of dystrophic pathophysiology.” The FASEB Journal. 19:543-549. London, ML, Ladewig, PW, Ball, JW & Bindler, RC 2007, Fundamentals of Maternal and Child Nursing Care, 2nd edn, Pearson Education, Inc., Prentice Hall, New Jersey. Neuromuscular 2005. DYSTROPHINOPATHIES: Duchenne, [Online], Avaliable at: http://neuromuscular.wustl.edu/pathol/dmdpath.htm [Accessed 20 October 2010]. Neuromuscular 2005. FACIOSCAPULOHUMERAL (FSH) DYSTROPHY [Online]. Available at: http://neuromuscular.wustl.edu/pathol/fsh.htm [Accessed 20 October 2001]. Shripathi, N. 2010. Facioscapulohumeral Dystrophy [Online]. Available at: http://emedicine.medscape.com/article/1176126-overview [Accessed 20 October 2010]. The National Institute of Neurological Disorders and Stroke (NINDS) 2010, Muscular Dystrophy: Hope Through Research [Online] Available at: http://www.ninds.nih.gov/disorders/md/detail_md.htm [Accessed 20 October 2010] Read More