• Journal of Genetic Medicine
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• 제10권2호
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• pp.94-98
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• 2013

Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

• Journal of the Korean Data and Information Science Society
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• 제21권6호
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• pp.1091-1100
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• 2010

본 논문의 목적은 근 위축 증후 학생을 가진 보호자의 자녀에 대한 의식과 자아존중감에 관한 연구를 통해서, 보호자 의식의 전체적 경향을 파악하고, 그와 같은 의식과 자아존중감이 보호자의 성별, 연령, 학력, 가계 월 소득, 자녀학년, 자녀의 신체능력, 근 위축 증후 인식경과 및 부모의 종교 유무에 따라 어떤 차이를 나타내는지 살펴보고, 보호자 의식 신장에 따른 정서적 인지적 측면의 성장과 발달을 꾀하여 보호자 교육의 기초 자료를 제공하고자 한다.

• Annals of Clinical Neurophysiology
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• 제6권2호
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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.

• 대한한방소아과학회지
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• 제28권3호
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• pp.74-84
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• 2014

Objectives The purpose of this study is to report the measurement results of Duchenne Muscular Dystrophy (DMD) in Patient Using Sensitiv $Imago^{TM}$ (SI) and Ryodoraku. Methods We conducted SI test and Ryodoraku test to a 7-year-old DMD patient who visited to Oriental pediatrics, Kyung Hee Medical Center. Results We obtained SI and Ryodoraku test results from a DMD patient. Conclusions Further study with more samples is necessary to establish accuracy of SI in clinical use.

• Annals of Clinical Neurophysiology
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• 제14권2호
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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.

• Journal of Interdisciplinary Genomics
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• 제1권1호
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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.

• 한국의류산업학회지
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• 제7권4호
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• pp.419-425
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• 2005

The purpose of this study is to analyze the physical characteristic by directly measuring the wheelchair using disabled women. The subjects were 103 disabled women of wheelchair used women and between 20 - 55 years of age. The result of this study is as follow. There was a remarkable difference in the physical characteristic of wheelchair using disabled women due to their cause of disability. The cause of disability was classified into the 4 groups; poliomyelitis, spiral cord injury, muscular dystrophy, cerebral palsy. Poliomyelitis disability generally had a large horizontal area due to their strong upper body. People with spiral cord injury disability was shown to have the largest height, cervical height, waist back length, crotch length, knee length, The group of muscular dystrophy disabled people have the shortest length of body and also lean. The cebral palsy group of disabled people has an average length and height size body. A comparison of anthropometric measurements of wheelchair using disabled women with National Anthropometric Survey Korea(1997) was significant difference. People with poliomyelitis disability was shown to have a larger waist back length, neck point to breast point compared to normal women, but stature, crotch length was shorter compared to normal women. People with spiral cord injury disability had a similar in the vertical area. The group of muscular dystrophy and cebral palsy disabled people was short and smaller in general compared to a normal woman.

• 대한물리의학회지
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• 제6권4호
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• pp.407-414
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• 2011

Purpose : The aim of this study was to clarify the lung capacity, maximal insufflation capacity, and peak cough flow when a mechanical insufflation-exsufflation(MIE) method was used to increase Duchenne muscular dystrophy patients' lung function. Methods : The subjects of the study were 21 patients with Duchenne muscular dystrophy. They were randomly selected from patients within the boundaries of the selection criteria, and divided into two groups; The subject group(n=11) used the mechanical insufflation-exsufflation method with traditional therapeutic exercise. The control group(n=10) used only traditional therapeutic exercise. Results :The results indicated that maximal insufflation capacity, unassisted peak cough flow and assisted peak cough flow significantly increased in the subject group(p<.05). By contrast, in the control group, the results didn't indicate the significant differences from the variable. There were significant differences in maximal insufflation capacity and assisted peak cough flow between the subject group and the control group before and after the application of the mechanical insufflation-exsufflation method. Conclusion : A mechanical insufflation-exsufflation method has positive effects on the improvements of cough functions and that of pulmonary functions such as lung volume, lung elasticity in patients with Duchenne muscular dystrophy.

• Annals of Clinical Neurophysiology
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• 제10권1호
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• pp.66-69
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• 2008

Facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited muscular dystrophy, is an autosomal dominant disease characterized by progressive weakness and wasting of the facial, shoulder-girdle, upper arm, foot extensor, and pelvic girdle muscles. FSHD is caused by contraction of the polymorphic D4Z4 repeat in the subtelomere of chromosome 4q. However, there has been no report of genetically confirmed FSHD in Korea. We report a patient with FSHD who was found to have a deletion of D4Z4 repeat on chromosome 4q35.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제21권2호
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• pp.103-109
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• 2010

Objectives : The purpose of the current study was to evaluate subject quality of life in depressed parents of boys with Duchenne/Becker muscular dystrophy (DMB/ BMD). In addition, a specific relationship between subject quality of life and the severity of depressive symptom was explored. Methods : The participants were 15 depressed parents who had moderate to severe depressive symptoms and 35 nondepressed parents of boys with DMD/BMD. All participants completed the World Health Organization Quality Of Life Scale, Brief Version and the Beck Depression Inventory. Other instruments included the Family Relationship Scale and the Child Behavior Checklist. Results : Among various model predictors, only higher score on the Beck Depression Inventory predicted lower scores on all domains of the World Health Organization Quality Of Life Scale, Brief Version. In addition, depressed parents had significantly lower scores on all domains of the World Health Organization Quality Of Life Scale, Brief Version including physical health, psychological health, social relationships, and environment, relative to non-depressed parents. Conclusion : Findings of the current study suggest that all domains of subjective quality of life may be influenced by depressive symptoms in parents of boys with DMD/BMD.