Introduction
Muscular dystrophies represent a spectrum of genetic diseases characterized by the progressive wasting and disintegration of muscles. In an attempt to provide an all-encompassing overview of muscular dystrophies, this review is further explored by considering the normal functioning of the muscular system, the molecular mechanisms of the disease, possible preventive options, predominant treatment methods, and a summarized list of the major findings. Through analysis of the complex relations of genes, muscle structure, and disease progression, this paper aims to increase the awareness and understanding of muscular dystrophies and, perhaps, facilitate the generation of more effective management strategies and treatment options for those people afflicted by these diseases.
Description of Pathology
According to Mercuri et al. (2019)., muscular dystrophies are a broad class of genetic diseases resulting in progressive degeneration and weakness of muscles. Such conditions develop due to mutations in genes involved in the production of proteins that are essential for a proper muscular structure and function, hence the problems related to muscle integrity and functioning. The ages of onset of muscular dystrophies differ depending on the type and are in the range from infancy to adulthood, and their degree of severity is also different. Examples of the most common types are Duchenne’s muscular dystrophy (DMD), Becker’s muscular dystrophy (BMD), myotonic dystrophy, and facioscapulohumeral muscular dystrophy (FSHD). However, the different classes of muscular dystrophy diseases all have the common clinical features of muscle wasting, weakness, and eventually, the loss of ability to move.
Normal Anatomy of the Major Body System Affected
The muscular system includes the skeletal muscles, the cardiac muscles, and the smooth muscles. Each of these muscle types serves a different physiological function. Skeletal muscles, being attached to bones with tendons, provide movement and also joint support. In the muscular system, there are two kinds of muscle fibers: slow-twitch and fast-twitch. Slow-twitch fibers contain many transverse tubules, T-tubules, which are arranged branch-like. Fast-twitch fibers have fewer T-tubules. Each fiber is composed of myofibrils consisting of striated units called sarcomeres (Mercuri et al., 2019). Cardiac muscles, the myocardium of the heart, enable regular contractions of the heart, which regulate blood in the whole body. The general muscles pass through the internal organs and blood vessels, thereby regulating involuntary movements such as peristalsis and vasoconstriction.
Normal Anatomy of the Major Body System Affected
Contraction as a complex physiological event depends on the intermolecular relationships among the cellular components as well as on signaling cascades. Acetylcholine release from the neuromuscular synapse is affected by neuron impulses, causing muscle cell membrane depolarization. Thus, this electrical impulse travels through the sarcolemma and transverse tubules to release calcium ions from the sarcoplasmic reticulum (Duan et al., 2021). Subsequently, the calcium binding to troponin starts a chain reaction, which, by structural alterations, uncovers the myosin-binding sites on actin filaments. This reconfiguration of the atoms involves the formation of cross-bridges, which causes muscle contraction. This process whereby ATP hydrolysis supplies energy to the movement of myosin heads repetitively, thus resulting in force production, is known to biologists as anchoring.
Cardiac and smooth muscle contractions both operate under general principles but with more sophisticated regulatory mechanisms to match the unique roles they play. However, discrepancies in regulation have little impact on the main stages of the excitation-contraction coupling, proving the essence of this process (Duan et al., 2021).
Mechanism of Pathophysiology
Venugopal & Pavlakis (2023) argue that muscular dystrophies refer to a group of genetic diseases where mutations disrupt the production or normal function of critical muscle proteins, leading to and compromising the structure and function of muscles. A well-known fact is DMD (Duchene) and BMD types of muscular dystrophies are caused by dystrophin gene mutations. Dystrophin has a crucial role in the stabilization of membranes of muscle cells when they contract; thus, the absence or malfunction of it causes muscle fibers to be more prone to damage and degradation, resulting in a progressively weakened condition.
Furthermore, myotonic dystrophy has been found to occur as a result of abnormal trinucleotide repeat expansions in particular genes, which prevents normal RNA processing and, hence, triggers cell dysfunction to result in muscle wasting. Despite the unique molecular pathways found in different types of muscular dystrophies, they share a common end-stage muscle degeneration and impaired regeneration. This understanding of these mechanisms is greatly essential for the design of therapies that are precisely targeted at the mitigation of such devastating conditions and offer hope of improved quality of life and better functional outcomes for affected individuals (Venugopal & Pavlakis, 2023).
Prevention
Presently, there are no antigeniques prevention strategies for muscular dystrophy due to its underlying gene. Nonetheless, Genetic screening and Counseling are going by the advancement in technology so as to identify the mutations in individuals at high risk. Through this, families have the ability to make decisions about family planning that are informed regularly, and they get access to supportive services. Additionally, there is substantial hope that interventions, including physical therapy and orthopedic support, will slow down the progression of symptoms and increase one’s quality of life (Mercuri et al., 2019). Although still an aspiration, these approaches are considered a very significant part of the path toward controlling muscular dystrophies and improving the lives of affected individuals and their families.
Treatment
The management of muscular dystrophy is an all-encompassing approach that involves the intervention of body muscles through the alleviation of quality of life as well as reducing the symptoms of the disease. At the core of the plan are multidimensional interventions geared towards the management of the disease through all its components. In treating NMDs, corticosteroids like prednisone and deflazacort are often used to accomplish this because of their ability to slow down the disease progression and curtail the onset of complications (Joshua et al., 2022). In addition, physical therapy becomes the main backbone of maintaining muscle strength, range of movement, and independence in daily tasks. Surgical procedures and braces may be required to take care of the skeletal abnormalities and contracture.
Additionally, modern muscular dystrophy treatment approaches keep on being shaped by the use of modern therapeutic modalities. For the first time in many years, gene therapy and exon-skipping drugs are beginning to deliver tailored approaches, targeting specific genetic mutations that are responsible for a different bunch of muscular dystrophies. Such improvements can offer not only treatment modification but also personalized approaches adapted to each patient’s conditions and needs. With the rapidly developing progress in the battle against muscular dystrophies, the hope for a way better management and outcomes is booming for the affected individuals in the future (Joshua et al., 2022).
Conclusion
The muscular dystrophies that combine genetically dependent groups of diseases are characterized by progressive muscle degeneration and muscle weakness. Nurses are the linkers between the pathophysiology and the preventive as well as therapeutic approaches, thus possessing a key role. Through their teamwork, shared care and evidence-based interventions can be the basis of a support system for individuals with motor neuron disorders and their families. Nurses empower patients to manage not only self-compliance with treatment regimens but also improve their quality of life through the knowledge and skills imparted through educating them. The use of compassionate intervention and holistic support makes nurses part of the holistic well-being of those affected. The nurses ensure that the patients receive comprehensive care designed for them; hence, the resilience and dignity of the individuals in the face of adversity are maintained.
References
Duan, D., Goemans, N., Takeda, S. I., Mercuri, E., & Aartsma-Rus, A. (2021). Duchenne muscular dystrophy. Nature Reviews Disease Primers, 7(1), 13.
Joshua, A. M., Keswani, K. H., & Misri, Z. (2022). Muscular Dystrophies. In Physiotherapy for Adult Neurological Conditions (pp. 731–769). Singapore: Springer Nature Singapore.
Mercuri, E., Bönnemann, C. G., & Muntoni, F. (2019). Muscular dystrophies. The Lancet, 394(10213), 2025-2038.
Venugopal, V., & Pavlakis, S. (2023). Duchenne muscular dystrophy. StatPearls.
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