• Clinical and Experimental Pediatrics
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• v.55 no.9
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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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• v.57 no.3
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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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• v.25 no.4
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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.

• Physical Therapy Korea
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• v.16 no.3
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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.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.50-54
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• 2019

Muscular dystrophy (MD) is a heterogeneous group of inherited neuromuscular disorders, characterized by progressive muscle weakness. Severity of the disease ranges from mild to severe, and the disease is mostly caused by mutations in a number of genes. These genetic mutations cause lack of proteins which are essential for muscle cell stability. Muscle fibers are gradually replaced by fat and fibrous tissue. The muscles of the head and neck are affected in several types of MD that manifest as altered craniofacial morphology and dental malocclusion. A 3-year-10-month old, 15.0 kg boy with MD presented to Seoul National University Dental Hospital, Seoul, South Korea because of extensive carious teeth. A number of dental caries in primary dentition were identified during clinical oral examination. Due to dental anxiety and underlying systemic disease, general anesthesia was considered. General anesthesia was induced and maintained with intravenous anesthetics, propofol and remifentanil. Caries treatments - resin restoration, pulpectomy, zirconia crown restoration, stainless steel crown restoration - were performed. Under general anesthesia, successful dental procedure was done. Total intravenous anesthesia (TIVA) was performed instead of inhalation anesthesia in order to avoid risk of complications such as malignant hyperthermia and life-threatening rhabdomyolysis. With decreasing muscle function, plaque control becomes more difficult and leads to gingivitis. Especially, the open-mouth posture worsens gingivitis and can leads to malocclusions and problems in swallowing. Regular and periodic dental care is essential for maintaining oral health for patients with MD.

• 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 Life Science
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• v.26 no.5
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• pp.592-602
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• 2016

This study investigated the muscular dystrophin levels in freely moving Australian cattle mainly fed grass, freely moving Korean cattle fed mainly a grain diet, and Korean cattle fed a grain diet but housed in a relatively limited space of a cow house. The total skeletal muscle specimens of 244 cattle were collected and immediately fixed in 10% neutral formalin. The same area was biopsied from the cattle in both countries. The findings showed that fatty infiltration is highly correlated with membrane-associated protein degradation in skeletal muscle, and that among several membrane-associated proteins, dystrophin showed the most significant reduction in expression in the cattle with fatty infiltration. Similarly, CD36 was more highly expressed in the cattle with fatty infiltration of skeletal muscle. Various breeding factors, such as oxidative stress; the presence of oxidized lipids in the diet; and environmental factors such as exercise, temperature and amount of time spent, may have critical effects on the degradation of normal cytoskeleton proteins, which are required for maintaining normal skeletal muscle architecture. Among the sarcolemma membrane-associated proteins, dystrophin is the most sensitive membrane protein that is involved muscular dystrophy and muscular degeneration. Thus, the present findings may be useful for studies on muscular dystrophy in humans or the pathogenesis of muscular diseases in animal models.

• Clinical and Experimental Pediatrics
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• v.62 no.6
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• pp.244-244
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• 2019

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.189-196
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• 2018

Purpose: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. Methods: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. Results: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. Conclusion: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.

• Journal of the Korean Society of Costume
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• v.55 no.5 s.95
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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