• Clinical and Experimental Pediatrics
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• 제55권9호
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• pp.350-353
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• 2012

An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons 45 to 49. He remained ambulant and could step upstairs without significant difficulties. A chest roentgenogram showed cardiomegaly (cardiothoracic ratio, 54%), and his electrocardiogram (ECG) showed abnormal ST-T wave, biatrial enlargement, and left ventricular hypertrophy. The 2-dimensional and M-mode ECGs showed a severely dilated left ventricular cavity with diffuse hypokinesis. The systolic indices were reduced, including fractional shortening (9%) and ejection fraction (19%). Despite receiving intensive medical treatment, he died from congestive heart failure 5 months after the initial cardiac symptoms. We report a case of BMD with early-onset dilated cardiomyopathy associated with deletion of exons 45 to 49. Early cardiomyopathy can occur in BMD patients with certain genotypes; therefore, careful follow-up is required even in patients with mild phenotypes of BMD.

• Clinical and Experimental Pediatrics
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• 제57권3호
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• pp.149-152
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• 2014

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin ${\alpha}2$ (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin ${\alpha}2$)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

• Molecules and Cells
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• 제25권4호
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• pp.531-537
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• 2008

Abnormal activation of nuclear factor kappa B ($NF-{\kappa}B$) probably plays an important role in the pathogenesis of Duchenne's muscular dystrophy (DMD). In this report, we evaluated the efficacy of curcumin, a potent $NF-{\kappa}B$ inhibitor, in mdx mice, a mouse model of DMD. We found that it improved sarcolemmic integrity and enhanced muscle strength after intraperitoneal (i.p.) injection. Histological analysis revealed that the structural defects of myofibrils were reduced, and biochemical analysis showed that creatine kinase (CK) activity was decreased. We also found that levels of tumor necrosis factor alpha ($TNF-\alpha$), interleukin-1 beta ($IL-1\beta$) and inducible nitric oxide synthase (iNOS) in the mdx mice were decreased by curcumin administration. EMSA analysis showed that $NF-{\kappa}B$ activity was also inhibited. We thus conclude that curcumin is effective in the therapy of muscular dystrophy in mdx mice, and that the mechanism may involve inhibition of $NF-{\kappa}B$ activity. Since curcumin is a non-toxic compound derived from plants, we propose that it may be useful for DMD therapy.

• 한국전문물리치료학회지
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• 제16권3호
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• pp.1-8
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• 2009

It is important to find the effective position for cough and sputum clearance in respiratory physical therapy. The purpose of this study was to compare the changes in peak expiratory flow (PEF), forced expiratory volume in 1 second ($FEV_1$), and peak cough flow (PCF) related to functional level and measurement position in patients with Duchenne muscular dystrophy. Twenty one subjects were classified into three functional levels, and measurements was undertaken in three different measurement positions (upright sitting, $45^{\circ}$ reclining and supine). Vitalograph PEF/FEV DIARY was used to measure PEF and $FEV_1$, and Ferraris Pocket Peak was used to measure PCF. Mixed two-way analysis of variance and Bonferroni post-hoc test were used for statistical analysis. The results of the study were as follows: 1) Significant main effects for measurement position were found. 2) PEF was the highest in upright sitting, followed by $45^{\circ}$ reclining, and supine in order. 3) $FEV_1$ in upright sitting and $45^{\circ}$ reclining were significantly greater compared with that in supine. 4) PCF in upright sitting and $45^{\circ}$ reclining were significantly greater compared with that in supine. 5) No significant main effects for functional level were found in PEF, $FEV_1$, and PCF. 6) No significant functional level by measurement position interactions were found in PEF, $FEV_1$, and PCF. Therefore, it is concluded that upright sitting and $45^{\circ}$ degree reclining positions are recommended for effective cough and sputum clearance.

• 대한장애인치과학회지
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• 제15권1호
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• pp.50-54
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• 2019

본 증례는 다수의 치아우식증을 주소로 내원한 근이영양증 환자의 전신마취 하 치과치료에 대한 보고이다. 근이영양증 환자들은 진행성 근육 약화로 인해 구강위생 관리하기가 힘들고 치아우식이 호발할 수 있다. 따라서 정기적으로 치과를 내원하고 올바른 구강 위생 습관을 확립할 수 있도록 환자 및 보호자교육을 실시하여야 한다. 치과치료 시에는 흡인으로 인한 호흡기 합병증이 발생하지 않도록 액체의 흡입을 주의 깊게 하여야 한다. 비협조적이거나 매우 어린 근이영양증 환자에서는 전신마취가 필요할 수 있다. 전신마취 시에는 악성 고열증의 위험 때문에 휘발성 마취제를 피해야 한다.

• Annals of Clinical Neurophysiology
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• 제21권2호
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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.

• 생명과학회지
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• 제26권5호
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• pp.592-602
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• 2016

풀사료를 주식으로 하며 자유롭게 방목되는 호주산 소와 곡물사료를 주식으로 하며 상대적으로 제한된 면적의 축사에서 사육되는 한국산 소의 두 가지 근육에서 디스트로핀 단백질 발현 수준을 비교하였다. 총 244 두의 식용소 도체로부터 양국에서 같은 부위의 골격근 조직을 채취하고 10% 중성 포르말린을 이용해 고정하였다. 본 연구에서 지방 침착률이 골격근 막 관련 단백질들의 소실과 밀접한 연관이 있다는 점을 발견하였는데, 특히 디스트로핀이 지방이 침착된 골격근에서 가장 유의적으로 감소하는 것을 확인하였다. 이와 동시에 CD36이 지방이 침착된 골격근에서 가장 풍부하게 발현하는 것도 확인하였다. 이렇게 정상 골격근의 구조를 유지하는 데 필요한 세포골격 단백질들의 소실에는 산화적 스트레스에서부터 사료의 종류에 따른 산화 지질 및 운동, 기후, 성장 기간 등의 환경에 이르기까지 다양한 사육 조건들이 영향을 미쳤을 것으로 여겨졌다. 디스트로핀은 근형질막 관련 단백질들 중에 근이영양증이나 근육 변성과 관계된 가장 민감한 막 단백질이다. 그러므로 본 연구는 사람의 근이영양증 관련 연구를 비롯해 동물모델을 이용하여 근육질환의 기전을 찾는 연구에도 중요한 초석이 될 것으로 보이며, 나아가 근이영양증 기전 규명을 위한 기초연구뿐만이 아니라 치료를 위한 실용화 연구에도 응용될 수 있을 것으로 사료된다.

• Clinical and Experimental Pediatrics
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• 제62권6호
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• pp.244-244
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• 2019

• 대한소아신경학회지
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• 제26권4호
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• pp.189-196
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• 2018

목적: 늘어지는 영아 증후군은 중추신경계 이상, 말초 신경계 이상 혹은 둘 모두의 이상으로 발생할 수 있다. 늘어지는 영아에서 원인을 진단하는 것은 환아의 치료와 발달 예후를 결정하는 중요한 요소로 현재까지 다양한 진단 알고리듬이 제안되고 있다. 본 논문에서는 늘어지는 영아 증후군의 원인에 대한 새로운 분류 및 증상 발현 시기에 따른 원인, 그리고 이들의 발달 예후에 대해 연구하였다. 방법: 2005년부터 2016년까지 세브란스병원에 내원한 늘어지는 영아들을 대상으로 EMR 차트를 후향적으로 분석하여 진단 및 임상적 특징을 분석하였고 환아들의 발달에 대해 보호자에게 일대일 전화인터뷰를 통해 조사하였다. 결과: 전체 116명의 환아 중에 원인에 대한 확진을 받은 경우가 69명으로 전체 진단율이 59.5%이었고 이들 중 Prader-Willi syndrome, myotonic dystrophy, spinal muscular atrophy가 가장 흔한 진단이었다. 전 연령대에 걸쳐 Prader-willi syndrome이 가장 흔한 진단이었고 특히 1개월 미만 증상 발현군에서는 Prader-willi syndrome, myotonic dystrophy, early infantile epileptic encephalopathy가 흔한 3가지의 진단이었다. 발달 예후 면에서 원인군 중 combined hypotonia에서 전 영역에 걸쳐 가장 나쁜 예후를 보였다. 결론: 현재까지의 논문과 본 논문에서의 늘어지는 영아 증후군에 대한 진단율은 유사했고 각 연령에 따른 흔한 진단에 대해서도 알아보았다. 발달 예후가 가장 나쁜 combined hypotonia군에 속하는 진단으로 확진되거나 의심되는 경우 초기 진단시부터 발달에 대해 체계적이고 단계적인 추적관찰이 필요하다.

• 복식
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• 제55권5호
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• pp.131-145
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• 2005

The purpose of this study is to analyze the physical characteristic by directly measuring the wheelchair using disabled women and to classify Body Type of a disabled person. 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. 1. 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. 2. The result came out to be 4 factors by the factor analysis on the data of an anthropometric measurement to the wheelchair using disabled women and also cluster analyzing the factor scores, the experiment was concluded to 4 types. Type 1 came out to be a short height with the shortest legs. Type 2 was body shape which had a corpulent upper body and wide shoulder but with short and slim lower body. Type 3 has the shortest height, weak and lean upper body, small shoulders Type 4 has the largest stature and legs 3. A comparison of anthropometric measurements of wheelchair using disabled women with National Anthropometric Survey Korea(1997) was significant difference