• Journal of Pharmacopuncture
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• v.9 no.3 s.21
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• pp.139-145
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• 2006

Objectives : The purpose of this case in so report the patient with Reflex sympathetic dystrophy, who is improved by Bee venom. Method : We treated the patient with Bee venom who was suffering from Reflex sympathetic dystrophy, using Digital Infrared Thermographic Imaging and Verbal Numerical Rating Scale(VNRS) to evaluate the therapeutic effects. We compared the temperature of the patient body before and after treatment. Result and Conclusion : We found that Bee venom had excellent outcome to relieve pain, atrophy and ankle joint ROM, and that Bee venom also had clinical effect on hypothermia on the Digital Infrared Thermographic Imaging.

• Journal of the Korean Society of Physical Medicine
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• v.6 no.4
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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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• v.10 no.1
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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 Genetic Medicine
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• v.1 no.1
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• pp.23-26
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• 1997

Myotonic dystrophy (DM) is caused by the expansion of CTG trinucleotide repeat near the 3' end of the gene encoding for a member of protein kinase gene family (DMPK). The normal range of the CTG repeat was determined in 178 normal individuals (141 unrelated individuals and 37 of 9 families) by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis and silver staining method. And the expansion of the CTG repeats in a DM family was analyzed with Southern analysis. In normal population, the range of CTG repeat is between 5 and 34 and 19 different alleles were observed in that range, and $(CTG)_{11-14}$ alleles were predominant. 4 members of an affected family showed the 0.5-2.0 kb size expansion of CTG repeats. In this study we could predict the incidence of DM in Korea as 1 in 20,000 and we could establish the diagnostic procedure for myotonic dystrophy.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.21 no.2
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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.

• Genomics & Informatics
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• v.7 no.4
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• pp.181-186
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• 2009

Myotonic dystrophy type 1 (DM1), which is a dominantly inherited neurodegenerative disorder, results from a CTG trinucleotide repeat expansion in the 3'-untranslated region (3'-UTR) of the myotonic dystrophy protein kinase (DMPK) gene. Retention of mutant DMPK (mDMPK) transcripts in the nuclei of affected cells has been known to be the main cause of pathogenesis of the disease. Thus, reducing the RNA toxicity through elimination of the mutant RNA has been suggested as one therapeutic strategy against DM1. In this study, we suggested RNA replacement with a trans -splicing ribozyme as an alternate genetic therapeutic approach for amelioration of DM1. To this end, we identified the regions of mDMPK 3'-UTR RNA that were accessible to ribozymes by using an RNA mapping strategy based on a trans-splicing ribozyme library. We found that particularly accessible sites were present not only upstream but also downstream of the expanded repeat sequence. Repair or replacement of the mDMPK transcript with the specific ribozyme will be useful for DM1 treatment through reduction of toxic mutant transcripts and simultaneously restore wild-type DMPK or release nucleus-entrapped mDMPK transcripts to the cytoplasm.

• Annals of Clinical Neurophysiology
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• v.19 no.2
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• pp.141-144
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• 2017

In facioscapulohumeral muscular dystrophy (FSHD), prominent inflammatory cellular infiltrates mimicking inflammatory myopathies are often observed in muscle biopsies. We report extensive inflammatory changes in a 16-year-old girl who was genetically confirmed as to have FSHD. Immunohistochemical staining revealed that this could be clearly distinguished from inflammatory myopathies, both in terms of cell subsets and the expression of antigenic targets. Our observations strongly suggest that the inflammatory cellular infiltrates in FSHD differ from those observed in inflammatory myopathies.

• Annals of Clinical Neurophysiology
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• v.20 no.2
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• pp.89-92
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• 2018

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

• Annals of Clinical Neurophysiology
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• v.21 no.2
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• pp.94-97
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• 2019

The patients with myotonic dystrophy (MD) show ocular motor abnormalities including strabismus, vergence deficits, and inaccurate or slow saccades. Two theories have been proposed to explain the oculomotor deficits in MD. The central theory attributes the defects of eye movements of MD to the involvement of the central nervous system while the muscular theory attributes to dystrophic changes of the extraocular muscles. A 58-year-old woman with MD showed selective slowing of horizontal saccades and reduced peak velocities for both horizontal canals in head impulse tests, while smooth-pursuit eye movements and vertical head impulse responses were normal. This case suggests that the extraocular muscles-as a final common pathway of the voluntary saccade and reflexive vestibular eye movements-may better explain the defective rapid eye movements observed in MD.

• 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.