• Journal of Interdisciplinary Genomics
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• v.3 no.2
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• pp.25-29
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• 2021

Myotonic muscular dystrophy is a disease characterized by progressive muscle weakness with myotonia and multiorgan involvement. Two subtypes have been recognized; each subtype is caused by nucleotide repeat expansion. So far, there has been no cure for myotonic muscular dystrophy. In this article, we introduce ongoing clinical trials for new drugs to modify disease course by correcting genetic derangement or its downstream in myotonic dystrophy type 1.

• Journal of Korean Physical Therapy Science
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• v.2 no.3
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• pp.633-643
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• 1995

A longitudinal study of self-concept and functional independence in 22 adolescents with progressive muscular dystrophy is reported. 30 adolescents with progressive muscular dystrophy completed Korean Self-Concept Scale, Modified Barthel Index, and a questionnaire examining demographic and medical factors. Functional independence was measured by Modified Barthel Index. Two years later, 22 of the 30 adolescents with progressive muscular dystrophy completed same Korean Self-Concept Scale and Modified Barthel Index. Adolescents with progressive muscular dystrophy were not changed on self -concept scores between test and retest. At retest adolescents with progressive muscular dystrophy scored significantly lower than at test on Modified Barthel Index. Compared to scale norms, subjects had significantly lower Total Self, Physical Self, Social Self, Self Satisfaction, Self Behavior scores. Age, years of education, and functional independence were significantly related self-concept. Functional independence was significantly related years of education.

• Journal of Acupuncture Research
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• v.18 no.3
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• pp.227-238
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• 2001

Objective : There was no report on the treatment of Fascioscapulohumeral (FSH) Muscular Dystrophy by Oriental medicine. But the treatment conducted on the patient admitted to the Sangji Oriental Medicine Hospital from January 9, 2001 to February 23, 2001, a significant treatment result was yielded and would like to suggest treatment plan for the future treatments. Methods : Under the assumption that Korean Bee-Venom Therapy may be affective for treating FSH Muscular Dystrophy, the following points were administered : SI10(노유), SI11(天宗), BL23(腎兪), BL26(關元兪), ST36(足三里), LI4(合谷), Liv3(太衝), SI9(肩貞). CFC(Carthami Flos;紅花 and Cervi Pantotrichum Cornu;鹿茸) herbal extract was treated on the other acupuncture points. Sa-Am(Four needle technique) Acupuncture (tonifying SI5 and ST42, sedating GB41 and ST43) was done every day. For herbal medicine, TaeEumIn ChoWiSeungChung-Tang was given based on the constitutional diagnosis. Results : After 7 weeks of treatment, a remarkable improvement was made for facial muscular movement and muscular strength of the scapular and another regions. Conclusions : 1. Significant improvement in the muscular strength for the case of FSH Muscular Dystrophy was obtained with through Korean Bee-Venom Therapy, Four needle technique, and herbal medication. 2. For progressive muscular dystrophy, it is necessary to practice muscular strength recovery exercise in conjunction with Korean Bee-Venom Therapy. 3. Although this case yielded favorable result, further observation and study must be made to concretely prove the effectiveness of Korean Bee-Venom Therapy for treating muscular dystrophies.

• Korean Journal of Poultry Science
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• v.38 no.2
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• pp.145-154
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• 2011

By a series of positional cloning, we successfully narrowed down the AM candidate region to approximately 1.2 Mbp on GGA2q including 7 functional genes. Subsequently, we identified WWP1 gene as the most likely AM candidate by sequence comparison. The amino acid sequence around the candidate mutation was highly conserved among tetrapods, suggesting that WWP1 is the causative gene of chicken muscular dystrophy. Transfection of mutated WWP1 gene into $C_2C_{12}$ myoblasts disrupted muscle differentiation process. The abnormal muscle differentiation is a characteristic of chicken muscular dystrophy, so we could demonstrate a part of phenotype of the disease. Furthermore, western blotting revealed that accumulation of caveolin-3 protein is limited in damaged muscle of muscular dystrophic chicken, suggesting caveolin-3 may be associated with the pathological change of the disease. We could conclude that WWP1 gene is the responsible one for chicken muscular dystrophy from these results, but the mechanism leading the onset should be clarified in the future. The information will contribute to the study of chicken muscular dystrophy and the corresponding human dystrophies.

• Clinical and Experimental Pediatrics
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• v.61 no.2
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• pp.59-63
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• 2018

Purpose: Cardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications. To clarify cardiopulmonary function, we compared cardiac function between the home ventilator-assisted and non-ventilator-assisted groups. Methods: We retrospectively reviewed patients with Duchenne muscular dystrophy from January 2010 to March 2016 at Gangnam Severance Hospital. Demographic characteristics, pulmonary function, and echocardiography data were investigated. Results: Fifty-four patients with Duchenne muscular dystrophy were divided into 2 groups: home ventilator-assisted and non-ventilator-assisted. The patients in the home ventilator group were older ($16.25{\pm}1.85years$) than those in the nonventilator group ($14.73{\pm}1.36years$) (P=0.001). Height, weight, and body surface area did not differ significantly between groups. The home ventilator group had a lower seated functional vital capacity ($1,038{\pm}620.41mL$) than the nonventilator group ($1,455{\pm}603.2mL$). Mean left ventricular ejection fraction and fractional shortening were greater in the home ventilator group, but the data did not show any statistical difference. The early ventricular filling velocity/late ventricular filling velocity ratio ($1.7{\pm}0.44$) was lower in the home ventilator group than in the nonventilator group ($2.02{\pm}0.62$. The mitral valve annular systolic velocity was higher in the home ventilator group (estimated ${\beta}$, 1.06; standard error, 0.48). Patients with Duchenne muscular dystrophy on a ventilator may have better systolic and diastolic cardiac functions. Conclusion: Noninvasive ventilator assistance can help preserve cardiac function. Therefore, early utilization of noninvasive ventilation or oxygen may positively influence cardiac function in patients with Duchenne muscular dystrophy.

• Physical Therapy Korea
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• v.22 no.3
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• pp.98-105
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• 2015

Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like $T_2$-weighted imaging, assess muscle damage, including inflammation, by detecting changes in $T_2$ relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.

• 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.

• The Journal of Korea CHUNA Manual Medicine
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• v.6 no.1
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• pp.177-187
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• 2005

Objective : We want to investigate the patient who has a muscular dystrophy how much muscular strength is improved and general conditions are changed after applying Sa-am acupuncture. Method : The patient who has a muscular dystrophy was evaluated by AchR-ab, VAS, pulling power test after applying Sa-am acupuncture.

• Journal of Acupuncture Research
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• v.32 no.4
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• pp.195-201
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• 2015

Objectives : The purpose of this study is to report on the improvement of respiratory function of a fascioscapulohumeral muscular dystrophy patient after receiving Korean medical treatment. Methods : This study was carried out on a 60 year-old male patient who suffered from fascioscapulohumeral muscular dystrophy. While we carried out Korean medical treatment, we observed $EtCO_2$ (end-tidal carbon dioxide), Vte (exhaled tidal volume) and PIP (peak inspiratory pressure). Results : $EtCO_2$ count decreased from 34 mmHg to 24 mmHg during the treatment period, and PIP count became stable. Vte count also did not worsen in this study. Conclusions : Based on this study, we concluded that Korean medical treatment could be effective in treating fascioscapulohumeral muscular dystrophy patients with respiratory failure.

• Journal of Genetic Medicine
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• v.10 no.2
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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.