Muscular Dystrophy - Clinical Monitoring Methods - Essay Example

MUSCULAR DYSTROPHY: ANALYSIS ASSIGNMENT By Student’s Name Code + Course Name Professor’s Name University Cite, State Date Clinical Monitoring Methods Duchenne and Becker MD are the most common muscular dystrophies that are recognized by clinical methods (Blake, Weir, Sewey & Davies, 2002). Duchenne muscular dystrophy patients are considered to be clinically normal at the time of their birth however, serum levels of their muscle isoform of creatine kinase are deemed to be elevated. First symptoms of the disease are noticed between the ages of 2 and 5 years given that a child presents a waddling gait or challenge in climbing stairs (Blake, et al, 2002). This is mostly attributed to significant delay in the attainment of motor milestones, walking, instability and also difficulty in running (Blake, et al, 2002). Consequently, the commencement of pseudohypertrophy of a child’s calf muscles, proximal limb muscle weaknesses as well as the Gower’s sign depicts a clear indication of DMD. In consequence, there is minimised lower-limb muscle strength as well as joint contractures that result in distinctive wheelchair overdependence usually by 12 years of age. Notwithstanding, there is a substantial weakness of hands, which happens later along with progressive kyphoscoliosis (Blake, et al, 2002). Most of the patients suffering from the condition eventually die in their early twenties due to respiratory failures that result from weakness of intercostals muscles as well as repetitive respiratory infections. It is also noted that DMD deaths would be caused by cardiac dysfunction with cardioamyopathy or cardiac conduction attributes that are noticed in the patients (Blake, et al, 2002). In persons that are affected by Becker muscular dystrophy, the clinical monitoring course is considered to be similar to one of Duchenne muscular dystrophy however; the beginning of symptoms as well as the rate of progression are significantly delayed (Blake, et al, 2002). In BMD, most of the patients would still be alive even in their twenties while some of them maintaining the aspect of mobility until old age. Notably, there is a commensurable clinical platform that occurs between mildly and severely affected Becker muscular dystrophy patients. Muscular dystrophy patients also manifest with mild cognitive levels of impairment, which is an indication that the functionality of the brain is also abnormal (Blake, et al, 2002). Types of Genetic Lesion for Muscular Dystrophy Some of the notable genetic lesions that cause the different types of muscular dystrophy include; the cystic lesion, which is the main cause of the congenital muscular dystrophy. It causes the genetic disease with an autosomal recessive model of resistance (Romfh & McNally, 2010). Diagnosis of this form of DM is through pathological evidence of muscular dystrophy on muscle biopsy or increases in serum creatine kinase occurrences in necessary clinical settings. For instance, in Fukuyama congenital muscular dystrophy, the brains of the patients are noted by abnormal cerebral migration, myelin pallor within its white matter as well as cerebellar cortical dysplasia. The cystic genetic lesions in this condition vary in their respective sizes, number as well as extent. They are also localised especially within the midpoints as well as the dorsal halves of the cerebellar hemispheres in cases where they are very few and less important in number (Romfh & McNally, 2010). The cystic lesions mostly appear beneath the already malformed cerebellar cortex or in areas characterised by polymicrogia that is located near to the boundary between the normal and polymicrogyric cortices. Duchenne and Becker muscular dystrophy are caused by a distinctive mutation of the dystrophin, which is the largest known genetic lesion that is situated within the chromosome Xq21 (Romfh & McNally, 2010). The genetic lesion is transmitted in an X-linked sequence whereby mothers are daughters are carriers and they have both normal and abnormal copies of these genetic lesions. Males inherit the defective copy that develops into the disease. In Duchenne MD, the dystrophin is completely absent while in Becker MD, the genetic lesion is severely minimised and depicts an abnormal molecular structure (Romfh & McNally, 2010). In limb girdles muscular dystrophies, the genetic lesion responsible for its occurrence is due to immediate deficiency in sarcoglycans (Romfh & McNally, 2010). The Genetic and Non-Genetic Analysis Methods of MD There are numerous ways that can be used to monitor the occurrence of the different types of muscular dystrophy. These methods are identified as follows; First, occurrence is conducted by way of investing the distinctive symptoms of the disease. Practitioners are expected to know symptoms associated with the muscular dystrophy or which have been identified by a patient as soon as they began to occur. These symptoms might involve patients finding it hard to take stairs, play around or even lifting objects (Tkatchenko, Pietu, Cros, Gannoun-Zaki, Auffray, Leger, Dechesne, 2001). The process of noticing whenever symptoms first appear and thereafter determining the muscles that have been affected are considered to be useful in assisting to comprehend the occurrence of the different types of muscular dystrophy affecting patients (Tkatchenko et al, 2001). In young children, symptoms are mostly monitored against the Duchenne muscular dystrophy, which is most common amongst boys. Symptoms might occur from the time of birth but the signs are commonly perceived in the age between 12 months and 3 years of age. Children might face difficulties in standing up after sitting up on the floor. They might opt to use the Gower’s manoeuvre do help stand up. This is where a child is only able to stand up whenever facing the floor, positioning their respective feet wide apart, by way of lifting their bottoms first and also, using their arms to walk up their respective legs so that they first place them on their knees then on their thighs (Tkatchenko et al, 2001). Second, the clinical motoring might involve accessing their respective family history. This is involves ascertaining cases of muscular dystrophy in one’s family background (Tkatchenko et al, 2001). The patient is encouraged to state whether family members suffered MD at one point in time. It helps the practitioner to comprehend and establish the type of muscular dystrophy the patients might suffer from. For instance, a patient that states a family history of limb girdle muscular dystrophy will assist in establishing if their type of MD is indeed inherited as a recessive or a dominant condition (Tkatchenko et al, 2001). Third, blood tests are conducted to ascertain the occurrence of muscular dystrophy in patients. The test involves taking blood samples from veins in the patients’ arms in order to test it for creatine kinase, which is a protein that is usually found in muscle fibres (Tkatchenko et al, 2001). It is important to comprehend that whenever muscle fibres are considered to be damaged, creatine kinase is released into the blood stream. Notably, the muscle fibre damage that is caused by some cases of muscular dystrophy would mean that the level of creatine kinase would be significantly higher in the blood than normal. Clinical methods might subsequently use blood sample for genetic testing, which can help ascertain and establish the cause of muscle problems without the immediate need for muscle biopsy (Tkatchenko et al, 2001). Fourth, the occurrence of muscular dystrophy can be done clinically through muscle biopsy. This is conducted by way of extracting a small sample of muscle tissue through a small cut or hollow needle so that later it can be examined and tested for possible proteins (Tkatchenko et al, 2001). The muscle is mostly taken from either the hands or legs in relation to the type of muscular dystrophy affecting a patient. In analyzing the proteins in the muscle sample, the practitioners are able to comprehend the immediate gene that is causing the occurrence of MD and thus, which form of the condition a patient suffers from. For example, persons suffering from Duchenne and Becker muscular dystrophy are considered to be having little of the protein dystrophin within their immediate muscle compositions and the proteins are mostly altered in their respective sizes (Tkatchenko et al, 2001). Limb-girdle muscular dystrophy can be monitored through the microscope where muscle tissues are examined in detail. The difference rests with the fact that healthy muscles are composed of closely packed and evenly sized fibers however; in patients with limb-girdle muscular dystrophy, the muscle fibres might be missing or different in their sizes or are even replaced by components of fats (Tkatchenko et al, 2001). Other notable tests that are expounded as below; Monitoring muscular dystrophy through nerve conduction research studies as well as electromyography. This is where numerous tests are conducted in order to examine the distinctive electrical activities in nerves as well as muscles when they are rest as well as whenever they are contracting (Tkatchenko et al, 2001). This can assist in establishing whether the problem at hand rests within the spinal cord, in the muscles or even within the nerves that carry impulses between the spinal cord and the immediate muscles. A chest X-ray is another test done to examine the possibility of muscular dystrophy. It is considered to be useful whenever evaluating breathing r heart based symptoms given that it would indicate abnormal enlargement of the heart or any other fluid that might be present in or around the lungs (Tkatchenko et al, 2001). Echocardiogram is yet another test used to establish the extent of damage caused by muscular dystrophy in patients. It is conducted by way of ultrasound scan of an individual’s heart using distinctive sound waves. It assists in availing a clear picture of the heart muscles as well as valves so that both the heart structures and functions can be checked for that matter (Tkatchenko et al, 2001). Recently, computerized imaging scan or rather MRI was formulated to examine and monitor the occurrence of muscular dystrophy. This is conducted when a given series of X-rays are done in order to develop a detailed picture of the inside of one’s body thus helping to disclose any possible muscle damages (Tkatchenko et al, 2001). References List Blake, D J, Weir A, Sewey S.E & Davies KE. 2002. Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle. Physiological Reviews, vol.82.no.2, p.291-329. Romfh A, McNally EM, 2010. Cardiac assessment in Duchenne and Becker Muscular Dystrophies. Current Heart Fail Rep, vol,7, issue.4, p.212-218. Tkatchenko AV, Pietu G, Cros N, Gannoun-Zaki L, Auffray C, Leger JJ, Dechesne CA, 2001. Identification of Altered Gene Expression in Skeletal Muscles from Duchenne Muscular Dystrophy Patients. Neuromuscular Disorders, vol. 11, p.269–277. Read More