Analysis of Muscular Dystrophy - Research Paper Example

? Muscular dystrophy Muscular Dystrophy Muscular dystrophy constitutes a group of various myopathies that are clinically and genetically different from each other. Muscular dystrophy presents mostly at birth and is an inherited disorder caused by chromosomal defects. These are considered the largest group of muscle diseases that present during the earlier years of life. Due to the massive number of sub-types, severe clinical presentation and the resulting disabling lifestyle, muscular dystrophies are studied extensively by the scientists and doctors. Duchene’s dystrophy is the commonest types and occurs in an estimate of 0.14 per 1000 children, reflecting the high incidence of this particular type of muscular dystrophies (Votroubek and Townsend 1997). Muscular dystrophy is defined as a group of more than thirty diseases that are described by the presenting features of progressive muscle weakness and muscle wasting. Apart from Duchene muscular dystrophy (DMD), other common muscular dystrophies include Becker muscular dystrophy (BMD), limb girdle muscular dystrophy (LGMD) and myotonic dystrophy (DM) (Cavendish 2007). The causes of muscular dystrophies, risk factors, clinical features, diagnosis, treatment modalities and pediatric home care will be discussed in the additional study. Muscular dystrophies are autosomal inherited diseases and can either be autosomal recessive or autosomal dominant. Deficiency of the protein dystrophin that constitutes the muscle fibers is the basic cause of muscular dystrophy. Deficiency or absence of the dystrophin protein results in the various clinical forms of muscular dystrophies. For instance it is reduced in BMD and absent in DMD. The muscle dystrophies are X-linked as the gene for the dystrophin gene is located on the X-chromosome and show X-linked pattern of inheritance (Cavendish 2007). This pattern of inheritance suggests that first female relatives including mothers and sisters of the affected boys will have an increased risk of passing on the genetics of the disease to their sons. Myotonic dystrophy is another subtype of muscular dystrophy caused by the abnormal changes to a protein that regulates the cells of the muscle fibers. Myotonic dystrophy is inherited in an autosomal dominant pattern and hence unlike the X-linked pattern types, both males and females have an equal chance of acquiring it. Limb Girdle muscular dystrophy is also an autosomal dominant inherited disease, however some sub-types show autosomal recessive pattern, and is caused by abnormal changes in proteins that regulate the stability and protection of muscles. Some rare yet unique types of muscular dystrophy include Emery-Dreifuss muscular dystrophy for which 300 cases have been diagnosed in USA up till now. Oculopharyngeal muscular dystrophy is prevalent in only the French-Canadian families in Canada and Spanish-American families living in USA (Cavendish 2007). The clinical features mainly involve muscle wasting and progressive weakness. Dystrophy initiates during the preschool phase of the children. However, for some types, symptoms may start as late as late childhood, early adult life or adolescence. Although wasting of muscles is under process but fattening of calf muscles, especially, is noted this is due to the increased amount of fibrous tissue and fat tissue (Votroubek and Townsend 1997). Most skeletal muscle weakness has a “limb-girdle” pattern in which the proximal muscles are weaker as compared to the distal group of muscles. Axial muscle weakness can lead to scoliosis and can leave the patient wheelchair bound (Griggs et al 2011). DMD is characteristically described with the features of muscular looking calves, difficulty in walking, sitting and abnormal gait. BMD is a milder form of DMD and the onset and progression of symptoms is also late. Congenital DM is a severe form which onsets early at birth and the infants have difficulty breathing or feeding leading to 25% deaths in the first 18 months (Cavendish 2007). The disease is slowly progressive and most children do not survive from muscular dystrophy after 21 years of life mainly due to cardiac and respiratory complications (Votroubek and Townsend 1997). Diagnosis is made through muscle biopsies which observe the levels of protein, dystrophin mainly. Reduced or absent levels of dystrophin are reflected through breakdown of muscle tissue and replacement with fat and fibrous tissue. Elevated creatinine levels are also indicative of muscle dystrophy in muscle biopsy. Electromyography detecting the muscle power through electric current is also helpful in making a diagnosis (Cavendish 2007). Electron microscopy is helpful in observing the abnormalities of dystrophin but cannot differentiate the type of dystrophies. Genetic testing provides a confirmation of dystrophy after a suspicious biopsy and clinical features (Griggs et al 2011). There is no specific treatment for muscle dystrophy however, supportive treatments like physical therapy, orthopedic surgery, controlling the complications and thorough pediatric care can improve the quality of life and prevent the various complications. Corticosteroids are the most recommended drugs that are helpful in slowing down the progressive weakness of muscles. Prednisolone and deflazacort have been shown to have effective results in DMD. Other medications like creatine, albuterol have been tried but significant outcomes have not been obtained. Gene therapy via myoblast has turned out to be unsuccessful; however, stem cell transplantation is still under experimentation (Griggs et al 2011). Therefore, no curative measure is present up till now for the muscular dystrophies however, the progressive weakening can be slowed down to extend the life span. Supportive management of muscular dystrophy patients is crucial which involves neurologists, psychiatrists, physical therapists, speech therapists, respiratory therapists and dieticians to improve the everyday activities and meet the needs of the affected individual. Physical therapy is vital in preventing contractures; hence stretching exercises should be performed regularly. Leg braces can be provided to help in mobility. Ventilatory care is important to prevent respiratory complications which are an important cause of death in muscular dystrophy especially pneumonia (Griggs et al 2011). Monitoring of respiratory symptoms, regular antibiotics, proper seating and positioning for improved pulmonary function and vaccination is important. Bowel habits should also be monitored and proper diet control including need of any laxatives, enemas should be met to prevent any gastrointestinal complications. Self care education which involves grooming, bathing, dressing, feeding and toileting should also be taught to the patient (Votroubek and Townsend 1997). Muscular dystrophy is a common inherited disorder affecting a large number of children every year. It is associated with disabling clinical features and the patient is mostly wheel-chair bound for the most of his life. The related complications are the major cause of death resulting in a shorter life span. Familial risk should be evaluated to prevent the disease since there is no cure available for muscular dystrophy. However, the quality of life and lifespan can be improved with slowing the weakening process and vigilant supportive therapy and home care for the patient. References Cavendish, M. (2007). Diseases and disorders. (2007). New York: Marshall Cavendish. Print Griggs, R. C., Amato, A. A., Aminoff, M. J., Boller, F., & Swaab, D. F. (2011). Muscular Dystrophies E-Book: Handbook of Clinical Neurology Vol 101 (Series Editors Aminoff, Boller, Swaab). Burlington: Elsevier Science. Retrieved from: http://books.google.com/books?id=aN5YRnBWeO8C&pg=PT152&dq=muscular+dystrophy&hl=en&sa=X&ei=xI7nT-SCHcv04QTmnuGKAQ&ved=0CGwQ6AEwCQ#v=onepage&q=muscular%20dystrophy&f=false Votroubek, W. L., & Townsend, J. (1997). Pediatric home care. Gaithersburg, Md: Aspen Publishers. Print Read More