• Annals of Clinical Neurophysiology
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• v.14 no.2
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• pp.53-58
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• 2012

For the last decades, molecular genetics has achieved great advances that the genes on the list of inherited muscle diseases are piling up. Those diseases of overlapping clinico-pathologic findings are now understood with discrete molecular pathogeneses. We are facing an exciting era that the long-waited gene therapy may eventually come true. Skipping of dystrophin exon 51 is on successful clinical trials, which will benefit about 13% of the children suffering from Duchenne muscular dystrophy. Exon skipping is under active investigation to expand the candidates. Hopefully it may cover majority of Duchenne muscular dystrophy mutations and some of other diseases. Adeno-associated virus is one of the most versatile tools for gene transfer. It may overcome the limitation of exon skipping. Here we review exon skipping technique of Duchenne muscular dystrophy and briefly discuss the other strategies being studied to cure inherited muscle diseases.

• Clinical and Experimental Pediatrics
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• v.51 no.12
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• pp.1295-1299
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• 2008

Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.

• Annals of Clinical Neurophysiology
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• v.3 no.1
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• pp.1-8
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• 2001

The distal myopathies(DM) are clinically defined as inherited or sporadic primary muscle disorders characterized by progressive muscular weakness and atrophy beginning in the hands or feet and pathologically by myopathic changes in skeletal muscles. The pathologic changes are somewhat similar to those seen in chronic muscular dystrophy, but necrotic and regenerative processes are less prominent and creatine kinase levels are either normal or only mildly elevated. The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inherited distal myopathy with rimmed vacuoles and distal muscular dystrophy(Miyoshi myopathy). At present, further study is necessary to determine why rimmed vacuoles are so common in the DM, and what role they play in the pathogenesis of muscle fiber atrophy and loss, predominantly in the distal portions of the extremities.

• Korean Journal of Health Education and Promotion
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• v.16 no.1
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• pp.83-100
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• 1999

Modern technology has lessened the physical demand of every activities. Thus, physical inactivity has led to a rise in ‘Hypokinetic diseases’. The prefix, hypo, means lack of and kinetic refers to movement. Individuals who do not exercise regularly are at greater risk of developing hypokinetic diseases such as coronary heart disease, hypertension, hyperlipidemia, obesity, musculoskeletal disease. Systematic exercise program defenses development of hypokinetic diseases. Exercise program bases on basic physical fitness test. The physical fitness evaluation is used to degree of Wellness of the individuals. It includes the evaluation of Health-Related Physical Fitness -musclular strength, muscular endurance, flexibility, cardiorespiratory endurance, body composition - and skill or sports related fitness -agility, balance, coordination, reaction time, speed. In present study, the authors investigated health-related physical fitness test result and questionnaire for 133 male and 71 female from Jannuary 16 to March 15, 1997. The purpose of this study is to observe relationship health related physical fitness and self-perceived health status. The results are as follows. 1. There were statistically significant differences in BMI, grip strength, back strength, muscular endurance, cardiorespiratory endurance, and flexibility between male and female subjects. Flexibility is higher in female than male subject, but Others are higher in male than female subjects. 2. There were statistically significant differences in grip strength, muscular endurance between 30s, 40s, and 50s group In both gender subjects, and In cardiorespiratoryendurance between the groups especially in Female subjects. 3. For male subjects, flexibilitywas measured lower in group who classified low level in self-perceived health status than group of others. Also, for female, subjects, Muscular endurance ＆ flexibility were measured. 4. It was shown that grip strength, back strength, and muscular endurance were significantly lower in group who have chronic diseases than normal group for Male subjects. But, For female subjects, all the component were statistically insignificant results between normal and disease group. 5. Both male and female subjects, there were Positive correlation among grip strength, back strength, muscular endurance, cardiorespiratory endurance, and flexibility but, negative correlation for age. Therefore, health-related physical fitness is very important component for Heath Promotion ＆ Wellness. Physical Fitness test is valuable test in health evaluation, health management and health promotion, so available for hospital, sports center, community health center, industrial field, school etc.

• Journal of Interdisciplinary Genomics
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• v.1 no.1
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• pp.1-5
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• 2019

Progressive weakness of skeletal muscle is the hallmark of muscular dystrophies. It is often accompanied by cardiomyopathy and respiratory insufficiency. It has generally been perceived as incurable diseases, while the advent of genetic therapy is changing the paradigm. Most research and achievements have been for the treatment of Duchenne muscular dystrophy, while it is promising to hope for therapies for other myopathies. Drugs for nonsense read-through and exon skipping are already approved for clinical use in Europe and the United States, respectively. Gene therapy using adeno-associated virus is in early phase of clinical trial. In this review, most promising genetic therapies will be briefly described.

• Annals of Clinical Neurophysiology
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• v.6 no.2
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• pp.65-74
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• 2004

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

• Clinics in Shoulder and Elbow
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• v.7 no.2
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• pp.94-97
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• 2004

Herpes zoster presents clinically with cutaneous vesicular eruption and pain along the dermatome, but it can sometimes cause muscular paralysis. When the disease involves cervical root, it is included in the differential diagnosis of shoulder diseases. A sixty-six year old patient, complaining of severe pain and weakness of his left shoulder, was referred to the authors as having a partial tear of the supraspinatus tendon on MRI. However, the authors found out a paralysis of the sixth cervical root in the patient by electrophysiologic studies, noting that the patient had been affected with a herpes eruption in the neck and arm two months before. Zoster paresis has been reported to be associated with the cutaneous eruption within two weeks of its onset, making its diagnosis not so difficult. The authors report a case of delayed-onset muscular paralysis after cutaneous herpes zoster, which presented just like a rotator cuff tear.

• The Journal of Korean Society for School & Community Health Education
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• v.21 no.2
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• pp.59-71
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• 2020

Objectives : The purpose of this study was to investigate the change of posture balance and muscular strength before and after exercise by conducting a health gymnastics program for the elderly with chronic diseases of musculoskeletal system. Methods : The subjects of this study were 32 elderly people who had no experience participating in the musculoskeletal system linkage gymnastics program over 65 years old in a rural area in H city, Gyeonggi-do. The data were analyzed by computerized processing with SPSS 23.0. Results : The results of the study were as follows: First, the average of muscular strength before and after gymnastics according to general characteristics was significant in average according to age, presence of spouse, education level, and cohabitation type. Second, the subjects exercised for 2 days a week, and 25.59(±0.51) minutes on average. Third, the change of balance of the face (t=2.993, p=.011), shoulder (t=3.811, p=.002) and pelvic left and right (t=3.584, p=.004) was statistically significant in the posture balance. Fourth, muscular strength was statistically significant in motor function of AMS, SMS, and FMS (p<0.001). Conclusion : Therefore, after applying the health gymnastics program, the improvement of posture balance and muscular strength of the elderly became apparent, so it is necessary to disseminate this gymnastics program. The health gymnastics program is expected to positively improve the quality of life for the elderly.

• The Journal of Industrial Distribution & Business
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• v.8 no.7
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• pp.63-70
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• 2017

Purpose - Due to the lack of physical activities and the increase of sedentary behaviors such as screen time, the health condition for contemporaries has been deteriorating. This study is designed to investigate how the use of worktable or tools unfit for body and sedentary behaviors can exercise influence on muscular skeletal disease and how it has an impact on lowering work efficiency and the quality of life with the medium of the muscular skeletal disease. Research design, data, and methodology - The research has developed a questionnaire with 5 hypothesis. The questionnaires were also made by interview and E-mail. 350 copies of questionnaires were distributed and 315 questionnaire were used for the analysis as valid data responses. SPSS ver.22.0 were used and made Cronbach's and reliability test, correlation, Baron & α Kenny 3 step mediated regression analysis. Results - The research has found that living environment factors have positive effect on the occurrence of musculosketal disease. Particularly, repeated use of unfit worktable or tools has a positive effect on the muscular skeletal disorder. And sedentary lifestyle also has a positive effect on the disease. The musculoskeletal disease caused by living environment has a positive impact on lowering the work efficiency. This study has also showed that the muscular skeletal disease has mediated the relationship between the living environment factors and the decrease of work efficiency due to musculoskeletal disease. The musculoskeletal disorders can effect the decrease of the quality of life as well, for the decrease of work efficiency has a positive effect on lowering the quality of life. Conclusions - Sedentary lifestyles, the use of worktable unfit for body, and the repeated use of a tool have caused the increase of muscular-skeletal diseases, and reduction of productivity as well as the hight cost of medical treatment for our contemporaries. Understanding the cause of disease morbidity, finding ways to prevent the disease, and educating people about them would contribute not only to improvement of individual health but also to the advancement of welfare for all.

• Culinary science and hospitality research
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• v.23 no.1
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• pp.66-78
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• 2017

"Sarcopenia", sarcopenia is an old age syndrome, and used to describe the reduction of skeletal muscle. Initially, it was thought that sarcopenia was only a senile disease characterized by degeneration of muscle tissue. However, its cause is widely regarded as multifactorial, with neurological decline, hormonal changes, inflammatory pathway activation, declines in activity, chronic illness, fatty infiltration, and poor nutrition, all shown to be contributing factors. Skeletal muscle mass can be measured by a variety of methods, currently, the commonly used methods are dual-energy X-ray scanning (DXA), computer tomography (CT), magnetic resonance imaging (MRI), etc. Muscular skeletal disorders can also be assessed by measuring appendicular skeletal muscle (ASM), particularly muscle tissue content. At the same time, sarcopenia refers to skeletal muscle cell denervation, mitochondrial dysfunction, inflammation, hormone synthesis and secretion changes and a series of consequences caused by the above process and is a progressive loss of skeletal muscle syndrome, which can lead to the decrease of muscle strength, physical and functional disorders, and increase the risk of death. Sarcopenia is mainly associated with the aging process, but also related to other causes such as severe malnutrition, neurodegenerative diseases, and disuse and endocrine diseases associated with muscular dystrophy, and it is the comprehensive results of multi-factors, so it is difficult to define that sarcopenia is caused by a specific disease. With the aging problem of the population, the incidence of this disease is increasingly common, and seriously affects the quality of the life of the elderly. This paper reviews the etiology and pathogenesis of myopathy, screening methods and diagnosis, the influence of eating habits, etc, and hopes to provide reference for the diagnosis and treatment of this disease. At present, adequate nutrition and targeted exercise remain the gold standard for the therapy of sarcopenia.