• Korean Journal of Child Studies
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• v.24 no.6
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• pp.15-31
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• 2003

This study examined the effects of emotion inducing contexts on types of infants smiling. Facial expressions of forty-five 11-to 15-month-old infants were videotaped in an experimental lab with positive and negative emotional contests. Infants' smiling was identified as the Duchenne smile or non-Duchenne smile based on FACS(Facial Action Coding System, Ekman & Friesen, 1978). Duration of smiling types was analyzed. Overall, infants showed more smiling in the positive than in the negative emotional context. Occurrence of Duchenne smiling was more likely in the positive than in the negative context and in the peek-a-boo than in the melody toy condition within the same positive context. Non-Duchenne smiling did not differ by context.

• Journal of the Korean Society of Physical Medicine
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• v.19 no.3
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• pp.65-72
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• 2024

PURPOSE: This study examined the effects of aquatic exercise on the functional activities of patients with Duchenne muscular dystrophy. METHODS: This study was a single-group experimental ABA design in three children with Duchenne muscular dystrophy. The study period was 20 weeks, consisting of 4 weeks of baseline, 12 weeks of intervention, and 4 weeks of maintenance, with 40 minutes of aquatic exercise once a week in the intervention. The Duchenne muscular dystrophy upper extremity patient-reported outcome scale and the expanded version of the Hammersmith Functional Motor Scale version of the Hammersmith Functional Movement Scale were used to determine the effects of aquatic exercise on the patient's functional activity. The measurements were taken five times: once at baseline, three times at intervention, and once at maintenance. The data collected in this study were analyzed using SPSS version 25.0, with a statistical significance level of α of .05, and the Friedman test, a non-parametric method was conducted. RESULTS: The functional activity scores improved significantly after 12 weeks of the intervention compared to the baseline and were maintained for up to 4 weeks after the intervention was complete. CONCLUSION: Aquatic exercise is an effective intervention for improving the functional activity of children with Duchenne muscular dystrophy and should be utilized in clinical practice.

• 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.

• The Journal of Pediatrics of Korean Medicine
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• v.28 no.3
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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.

• 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.

• Clinical and Experimental Pediatrics
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• v.60 no.6
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• pp.196-201
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• 2017

Purpose: Myocardial dysfunction and dysrhythmias are inevitable consequences of Duchenne muscular dystrophy. We aimed to evaluate specific trends of electrocardiographic changes that reflect the progress of cardiomyopathy in patients with Duchenne muscular dystrophy. Methods: Fifty electrocardiograms (ECGs) of 30 patients (ages 1 to 27 years) who had not been prescribed medications for heart failure treatment at the time of examination were retrospectively analyzed and compared with 116 ECGs of age-matched healthy 116 controls. Heart rate, leads with fragmented QRS (fQRS), corrected QT, Tpeak-to-Tend, and Tpeak-to-Tend/QT were analyzed. Results: The patients with Duchenne muscular dystrophy failed to show a normal age-related decline in heart rate but showed an increasing trend in the prevalence of fQRS, corrected QT, corrected Tpeakto-Tend, and Tpeak-to-Tend/QT over time. In the ${\leq}10-year-old$ patient group, a significant difference was found only in the prevalence of fQRS between the patients and the controls. The prevalence of fQRS, heart rate, Tpeak-to-Tend/QT, and corrected Tpeak-to-Tend demonstrated significant differences between the patients and the controls in the middle age group (11 to 15 years old). All the indexes were statistically significantly different in the ${\geq}16-year-old$ patient group. Conclusion: The prevalence of lead with fQRS representing regional wall motion abnormalities was higher in the young patients than in the young healthy controls, and this might be one of the first signs of myocardial change in the patients. Markers of depolarization and repolarization abnormalities were gradually prominent in the patients aged >10 years. Further studies are needed to confirm these findings.

• 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.

• 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.

• Journal of Korean Biological Nursing Science
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• v.7 no.1
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• pp.29-46
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• 2005

Purpose ; 본 연구는 X-염색체와 관련된 장애 중에서 가장 흔하고 심한 Duchenne Muscular Dystrophy(DMD)의 세포유전학 및 분자유전학적 특성을 설명하기 위해서 DMD에 영향을 받고 있는 두 가계의 13명을 대상으로 가계도 분석과 염색체 분석 및 DNA 분석을 하였다. Method ; DNA분석은 DNA probe을 이용한 Southern blotting method로써 RFLPs와 DMD유전자 부위의 exon소실 유무를 조사하여 아래와 같은 결과를 얻었다. Conclusion ; A 염색체 분석 : 말초혈액과 양수를 표본으로 High-Resolution GTG염색에서 A가계와 B가계의 염색체 분석에서 12명의 염색체는 정상 X-염색체였으나 B가계의 I-2(DMD여성)에서 46, x,-x,+t(2:x)(q 21.1 : p21.2)로 나타난다. B. DNA분석3 : 1) RFLPs의 분석 J66,XJ-1.1,754-11로써 B가계의 RELPs(Restriction Fragment Length Polymorphisms)에서 J66/Pst I은 1.7hb(E), 1.6kb(e)을 보여 주었고 XJ-1.1/Taq I은 3.6kb(F), 3.0kb(f), 754-11/EoR I은 4.2kb(G), 2.0kb(g)의 대립인자를 나타내었다. 이상의 결과를 바탕으로 영향을 받고 있는 남자 (II-2)의 haplotype는 보인자인 어머니의 한쪽 인자를 받았으며 어머니와 딸은 보인자이고 임산부의 태아는 남아였고 태아의 인자들은 그의 할아버지로부터 물려받아 DMD에 영향을 받지 않은 것으로 진단되었다. 2) DMD 유전자의 exon 소실에 대한 분석 cDNA probe 8과 cDNA probe 2b-3으로써 소실에 대한 진단은 영향을 받은 남자(II-2)는 cDNA probe 8에서 12, 7.3, 6.6, 4.2kb에 소실이 있고 cDNA 2b-3은 1.7kb에 소실에 나타났다.

• 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.