The Neurological Disease – Muscular Dystrophy

The Neurological Disease – Muscular Dystrophy

Introduction

            Muscular dystrophy is an inherited muscular disorder-affecting children most especially. The incidence of this illness is widely spread in the United States with an estimated amount of 200,000 Americans of all ages as according to the National Institute of Health and Human Development (n.d). There are several types of muscular dystrophy: facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, myotonic dystrophy, ocular dystrophy, Duchenne muscular dystrophy, and Becker’s muscular dystrophy.

            In 1830, the first appearance of muscular dystrophy is noted when Sir Charles Bell initiated his writings about progressive weakening in males of their time. In 1850s, further descriptions of the condition occurred, which mainly connotes progressive weakening, loosing the ability to walk, and death at an early age. Later after the writings and research, a French neurologist, Guillaume Duchenne, provided a concise disease analysis and research with most common and extensive disease manifestation on a 13-year-old boy; hence, the disease condition was named after the discoverer, Duchenne’s muscular dystrophy (Gleadle, 2007 p.187).

In the condition of muscular dystrophy, the nerve supply to the muscles is unaffected; however, the basic disturbance is an abnormality in the muscle fibers that induces the condition and the most common and severe type of muscular dystrophy is Duchenne muscular dystrophy (Crowley, 2006 p.778). There are primarily three common feature involved in all types of muscular dystrophy, particularly heredity, progressive and each follows a characteristic pattern. The term dystrophy refers to a progressive weakening of the muscles due to a breakdown of the muscle fiber. Unfortunately, there is no known direct and tested cure for this group of conditions as of today. However, medical and surgical management along with physiotherapy and occupational therapy can improve the quality of life for children with these conditions (Coulter, 2004). These interventions do not guarantee absolute improvement of the case but according to research findings; such therapies usually lead to promising results, which most commonly seen gradually through consistent and proper therapeutic procedures.

Pathophysiology and Disease Description

            Muscular dystrophy is characterized by an inherited degeneration of various muscle groups that begins after a period of apparently normal muscle development and physiology. In some varieties, the onset is delayed until adulthood, although it is still regarded as a primary muscle disorder, which clinical and electro physiological evidence has suggested a neurogenic component. According to the general features of muscular dystrophy: (1) Most of the time positive familial disease of muscular dystrophy, (2) The distribution and sequence of muscle damage will vary widely depending on the type of dystrophy, (3) muscle weakness and evident muscle wasting due to the degeneration of fibers being replaced by fat and hypertrophied muscle is directly involved (4) Reflexes are often depressed or absent very early in the course of muscular dystrophy and long before the muscle is significantly wasted, and lastly, (5) the terminal phase of widespread muscular wasting, weakness and loss of reflexes, which indicates diffuse neurological disorder (Pattern, 1996 p.315).

            According to the book of Nielsen (2002) entitled, Brief Reference of Student Disabilities– With Strategies for the Classroom, there are presently different types of muscular dystrophy known to the medical field. Facioscapulohumeral muscular dystrophy appears between the age of 10 and 40 affecting the muscles of the upper arms, shoulder girdle, and facial area. Progression is slow and rarely leads to complete disability. Limb-girdle muscular dystrophy mainly affects the muscles of the hips and shoulders with gradual progression, and usually progresses in late childhood or early 20s. Myotonic dystrophy is a relatively rare form of dystrophy that affects the hands and feet. Muscles are unable to relax for several seconds after a forceful contraction. In the case of infants, the disease progression usually manifests pronounced floppiness with gradual development. Ocular dystrophy is also a rare form of muscular dystrophy, which affects the eyes and throat. It can result in double vision, drooping eyelids, and difficulty of swallowing due to the degeneration of throat muscles. The most common form is Duchenne’s muscular dystrophy appearing only in males. About 1 to 2 in 10,000 boys are affected, and approximately one third of those are mentally retarded. This type of dystrophy is genetic, inherited through recessive sex-linked gene-affecting boys, but it may also be passed on to female, which possesses 50% chance of passing on to infant son. The signs and symptoms of Duchenne’s muscular dystrophy appear within the first three yeas of life, which initially manifests weakening of hip-girdle muscles followed by the weakening of the shoulder muscles. Other manifestations include gait uncertainty, frequent falling, and difficulty getting up from the floor or climbing stairs. Lastly, the condition of Becker’s muscular dystrophy is primarily similar to Duchenne except for the occurrence of spine curvature and evident muscle bulkiness due to wasting (p.113).

            The disease process involves the defective gene that encodes a protein called dystrophin, which is the protein that is involved in stabilizing the muscle membrane during contraction and relaxation, as part of the linking of the intracellular cytoskeleton and the extracellular matrix. The dystrophin protein is also involved in the differentiation of muscle fibers into the fast glycolytic type. In the condition of muscular dystrophy, dystrophin muscle protein is absent; hence, resulting in the disruption of normal muscle structure. In the later stages of the disease, contractile tissue is almost completely replaced by connective tissue and fat. The abnormality causes tissue degeneration and can ultimately lead to muscular degeneration (Cerny & Burton, p.170).

Treatments Available

            The first goal of treatment in individuals with muscular dystrophy is to avoid making matters worse. With the advent of medical technology, there is no successful direct treatment to halt the progression of the disease. Orthopedic appliances, exercise, physical therapy, medications, and surgery to correct contractures can help preserve mobility. Physical therapy interventions are utilized in order to prevent progressive contractures, maintain range of motion, and prolong functional capacity, and self-care. The focus mainly of muscular dystrophy treatment is prevention of muscle complications (Meyer, 2000 p.143).

The pharmacological interventions for individuals with muscular dystrophy are primarily based upon management of secondary medical conditions. Corticosteroids administrated daily (0.75 mg/kg) have been proven to be effective in reducing the progression of weakness associated with muscular dystrophy. This intervention does not reverse the effects of the disease, but does slow the progressive loss of muscle power, and therefore, maintains function for a longer period of time (Moffat etal, 2006 p.65). Corticosteroids are associated with increased risk of Osteoporosis; therefore, it is essential for these individuals to take supplemental calcium, vitamin D, and in many instances, bisophosphates. Other drugs used to treat myotonic symptoms and complications are quinine, procainamide, and phenytoin (Myers etal, 2002 p.79).

            Surgical interventions are also potential treatment in order to alleviate the conditions and the complications resulted by the disease. Contracture-corrective surgeries, spinal braces, and orthopedic hip girdles are some of the utilize surgical methodologies for correcting the muscular complications (Andrew etal, 2000 p.352)

Stem Cell Research in Muscular Dystrophy: Journal Review

            As according to the latest stem cell research with aims to treat the condition of Duchenne muscle dystrophy, a normal muscle possesses stem cells that are potential alleviators of the dystrophic muscles. The research has examined the benefit of such stem cell in terms of it regenerative capacity as it merges with the adult muscular cells. Post-natal satellite does not muscles possess the capacity to regenerate into full-term muscle fibers; however, once it merges with the adult muscle stem cells, it manifests potential muscular enhancement. Such experiment is mainly applied on mice studies, although, initially results show promising probabilities (p.2302-2303).

            In the long run of the experiment, it has been found that the conditions of mice studies are inaccurate for human application, although, these creatures are the best specimen for the research. At first, it manifests muscular enhancements and growth; however, in the long run of experiment, stem cell induction has caused tremendous and progressive muscular wasting due to immunologic response (Heslop etal, 2000 p.2304).

Health Care Plan

            One of the primary complications caused by Muscular dystrophy is bedsores due to the prolonged immobility; hence, impairment in skin integrity results. If such condition is prolonged, this leads to potential source of infection, and worst of all is the progression of septicemia.

Conclusion

In the overall study course, we determined the major components and processes involved in the disease causation as well as occurrence.  A French neurologist, Guillaume Duchenne, provided a concise disease analysis and research that initiated the discovery of muscular dystrophy. The disease process of muscular dystrophy involves the absence of a muscular membrane-stabilizer, dystropin, which is due to hereditary alterations. Muscular dystrophy involves various classifications, specifically facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, myotonic dystrophy, ocular dystrophy, Duchenne muscular dystrophy (most common subcategory), and Becker’s muscular dystrophy. With all the classifications mentioned, disease manifestations are practically similar, particularly muscle wasting, weakening, reflex-reduction to disappearance, and gait and posture defects. Moreover, the condition runs and transmitted genetically most especially to males. Unfortunately, the disease possesses no direct reversal treatment; hence, the condition tends to remain lifetime progression. However, there has been indirect pharmacologic and medico-surgical interventions made, such a corticosteroids, orthopedic braces, contracture-correction, etc, in order to promote the quality of life of these patients that possess the condition.

References

Andrew etal, J. G. (2000). Musculoskeletal Medicine and Surgery. Elsevier Health Sciences.

Cerny, F. J., & Burton, H. (2001). Exercise Physiology for Health Care Professionals. Human Kinetics.

Coulter, S. (2004). Supporting Children With Medical Conditions. Nat’l Acupuncture Foundation.

Crowley, L. V. (2006). An Introduction to Human Disease: Pathology and Pathophysiology Correlations. Jones and Bartlett Publishers.

Gleadle, J. (2007). History and Examination at a Glance. Blackwell Publishing.

Meyer, T. (2000). Physical Therapist Assistant Examination Review. SLACK Incorporated.

Moffat etal, M. (2006). Musculoskeletal Essentials: Applying the Preferred Physical Therapist. SLACK Incorporated.

Myers etal, J. (2002). ACSM’s Resources for Clinical Exercise Physiology. Lippincott Williams & Wilkins.

Nielsen, L. (2002). Brief Reference of Student Disabilities– With Strategies for the Classroom. Corwin Press.

Pattern, J. (1996). Neurological Differential Diagnosis. Springer.