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Original Article
Cardiology
Cardiac function associated with home ventilator care in Duchenne muscular dystrophy
Sangheun Lee, Heeyoung Lee, Lucy Youngmin Eun, Seung Woong Gang
Clin Exp Pediatr. 2018;61(2):59-63.   Published online February 28, 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...

The evolution of electrocardiographic changes in patients with Duchenne muscular dystrophies
Woo Hyun Yoo, Min-Jung Cho, Peter Chun, Kwang Hun Kim, Je Sang Lee, Yong Beom Shin
Clin Exp Pediatr. 2017;60(6):196-201.   Published online June 22, 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...

Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy
Tae Ho Lee, Lucy Youngmin Eun, Jae Young Choi, Hye Eun Kwon, Young-Mock Lee, Heung Dong Kim, Seong-Woong Kang
Clin Exp Pediatr. 2014;57(5):232-239.   Published online May 31, 2014
Purpose

Mitochondrial disease (MD) and Duchenne muscular dystrophy (DMD) are often associated with cardiomyopathy, but the myocardial variability has not been isolated to a specific characteristic. We evaluated the left ventricular (LV) mass by echocardiography to identify the general distribution and functional changes of the myocardium in patients with MD or DMD.

Methods

We retrospectively evaluated the echocardiographic data of 90 children with...

Case Report
Congenital muscular dystrophy type 1A with residual merosin expression
Hyo Jeong Kim, Young-Chul Choi, Hyung Jun Park, Young-Mock Lee, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang
Clin Exp Pediatr. 2014;57(3):149-152.   Published online March 31, 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 α2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin α2)-deficient skeletal muscles. However, the...

A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae
Clin Exp Pediatr. 2012;55(9):350-353.   Published online September 14, 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...

A childhood case of spinal tuberculosis misdiagnosed as muscular dystrophy
Doo Il Song, Su Ye Sohn, Yun Kyung Kim, So Hee Eun, Young Jun Rhie, Gi Young Jang, Chan Wook Woo, Byung Min Choi, Jung Hwa Lee, Bo Kyung Je
Clin Exp Pediatr. 2010;53(5):657-660.   Published online May 31, 2010

Tuberculosis is primarily a pulmonary disease, but extra-pulmonary manifestations are not uncommon, especially in children and adolescents. Ten percent of extra pulmonary tuberculosis localizes to the bones and joints, and 56% of such cases affect the spine. We treated a childhood case of spinal tuberculosis misdiagnosed as muscular dystrophy in a patient without specific constitutional symptoms. We report this case...

Review Article
Neuromuscular disorders in children : Diagnosis and treatment
Jong Hee Chae
Clin Exp Pediatr. 2008;51(12):1295-1299.   Published online December 15, 2008
Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on...
Original Article
A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy
Dae-Won Shin, Jun Huh, Hong-Jin Lee, Won-Ill Park, Kyung-Ja Lee, Yoon-Sook Shin, D.R. Sjarif, B.T. Poll-The
Clin Exp Pediatr. 2001;44(1):83-88.   Published online January 15, 2001
On Xp21 region several genes such as adrenal hypoplasia congenita(AHC) gene, glycerol kinase (GK) gene and Duchenne muscular dystrophy(DMD) gene are located contiguously. If there is a long deletion in that region, various combination of genetic defect can be occurred from one kind of genetic defect to all three kinds of genetic defect simultaneously. In case of more than two...
Clinical and Histologic Study of Progressive Muscular Dystrophy Which was Considered as Chronic Hepatitis
Jae Kwang Kim, Ki Sup Chung, Tae Seung Kim
Clin Exp Pediatr. 1995;38(2):216-222.   Published online February 15, 1995
Purpose : The authors have experienced thirty three children of progressive muscular dystrophy. 10 children of these(30.3%) were considered as chronic hepatitis because of persistent, u nexplained elevated serum aminotransferase values. We performed this study in order to evaluate the characteristics of age distribution, clinical and histologic features in children considered as chronic hepatitis. Methods : This study was performed on...
Case Report
A Case of Fukuyama Type Congenital Muscular Dystrophy
Young Eun Lee, Min Hyea Kim, Keun Lee, Eun Chul Chung, Hyea Soo Koo
Clin Exp Pediatr. 1992;35(10):1463-1468.   Published online October 15, 1992
Fukuyama type congenital muscular dystrophy is characterized by mental retardation, progressive muscle weakness and hypotonia, joint contracture and seizures in half of the reported cases. The usual CT abnormalities are dilated cerebral ventricles and Sylvian fissures and lucency of cortical white matter. The most consistent pathologic findings in the brain are polymicrogyria and pachygyria, caused by a disturbance of migration...
Original Article
A Clinical Study on Duchenne Muscular Dystrophy
Moon Sun Yang, Su Ahn Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 1992;35(5):652-658.   Published online May 15, 1992
Twenty-five cases of Duchenne muscular dystrophy(DMD) who were diagnosed in the department of pediatrics, Seoul national university hospital (from Jan. 1985 to June 1991) were reviewed. The results were as follows. 1) All of the patients were male. 2) The onset of symptoms was between two and eight years of age. The peak incidence was at four years of age. 3) Chief complaints...
A Clinical Study on Duchenne Muscular Dystrophy in Childhood.
Chung Il Noh, Yong Seung Hwang
Clin Exp Pediatr. 1985;28(6):581-586.   Published online June 30, 1985
Twenty-six cases of Duchenne muscular dystrophy (DMD) who were diagnosed in the Department of Pediatrics, Seoul National University Hospital from Jan. 1976 till Jan. 1985 were reviewed. The onset of symptoms was between two and eleven years of age. The peak incidence was at 3 years of age. Both extremities were involved in 14 cases. The degree of involvement was...
Case Report
A Case of Progressive Muscular Dystrophy.
Myung Sook Kim, Kyung Sook Choi, Jung Ju Kim, Dong Hak Shin, Sang Sook Lee
Clin Exp Pediatr. 1982;25(1):97-101.   Published online January 31, 1982
We want to report one case of Duchenne type muscular dystrophy in a female. This patient was seven years of age. Clinical symptoms first appeared at age 3 and progressed insiduously. The Gower's sign was positive. She had a borther who had similar clinical signs and symptoms. He died at age 12. An increased ratio of creatine and creatinine was...
Duchenne Type Muscular Dystrophy Occuring in 2 Brothers.
Bong Soo Lee, Jon Kerl Lee, Chang Soo Ra
Clin Exp Pediatr. 1981;24(3):271-274.   Published online March 15, 1981
We were experienced. Duchenne typs muscular dystrophy occuring in brothers of 13years and 18years old boy. In all cases, ssrum CPK levels were significantly increased and typical waddling gait and Gowers sign were noticed, the muscle biogsy findings were also compatible with progressive muscular dystrophy. We report with brief review of literatures.