• The Korean Journal of Legal Medicine
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• 제42권4호
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• pp.159-163
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• 2018

Progressive muscular dystrophy (PMD) is a primary muscle disease characterized by progressive muscle weakness and wasting, which is inherited by an X-linked recessive pattern and occurs mainly in males. There are several types of muscular dystrophies classified according to the distribution of predominant muscle weakness including Duchenne and Becker, Emery-Dreifuss, facioscapulohumeral, oculopharyngeal, and limb-girdle type. Clinical manifestations of PMD are clumsy, unsteady gait, pneumonia, heart failure, pulmonary edema, hydropericardium, hydrothorax, aspiration, syncopal attacks, and sudden cardiac death. The deceased was a 34-year-old man, and the onset of the first clinical symptom, gait disturbance, was in his late teens. His elder brother had the same disease and experienced brain death after a head trauma and died after mechanical ventilation was discontinued. After an autopsy, we found contracture of the joints, pseudohypertrophy of the calf, wasting and fat replacement of the thigh muscle, pericardial effusion (80 mL), fibrosis and fat replacement of the cardiac ventricular wall, pulmonary edema, and froth in the bronchus. The cause of death was heart failure and dyspnea due to muscular dystrophy. There was no sign or suspicion of foul play in his death.

• Child Health Nursing Research
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• 제7권4호
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• pp.421-433
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• 2001

The purpose of this phenomenological study was to understand the lived experience of mothers of children with muscular dystrophy. The participants were 11 mothers recruited by snowball sampling, who agreed with the objectives of the research and could verbally communicate with the researcher and who lived with their sons who had muscular dystrophy. Data collection was done through in-depth interviews with participants in their own homes. Each interview took 50 to 120 minutes. All of the interviews were audiotaped and then transcribed. Data were analyzed using Colaizzi's (1978) method of phenomenology. From the transcripts 109 significant sentences and phrases were selected and 13 clusters of themes were categorized from 67 significant statements. These results were integrated into the essential structure of the lived experience of mothers of children with muscular dystrophy. 1. Anxious and relying on chance due to indefinite diagnosis. 2. Only able to cry with shock because of son's fatal disease. 3. Seeing the future as dismal and feeling resentment that this disease in transmitted through the mother. 4. Feeling caught between a husband who is distancing himself from his family and the family which is disintegrating. 5. Feeling like a sinner for transmission of genetic disease(Feeling guilt for conceiving a son with a genetically transmitted fatal disease). 6. Empathizing with other suffers of muscular dystropy and their parents in their grief and helping to dissipate their heavy feelings. 7. Deciding to sacrifice self as a way of taking responsibility for giving birth to a handi-capped son. 8. Losing hope (feeling despair) as son's condition deteriorates in spite of all attempts to help him. 9. Wishing to die with son who becomes progressively immobile. 10. Accumulating Han*(한, 恨), because of rising Hwa(화, anger), and becoming sick both mentally and physically. 11. Seeing events as destiny and finding self-control through faith. 12. Finally, giving up sacrificing self for son and becoming concerned(involved) with other children in the family. 13. Feeling fear at son's impending death. This is the first research on the experience of Korean mothers of children with muscular dystrophy. In applying the phenomenology research method, this study not only helps health professionals understand the experience of these mothers in the Korean patriarchal social system, but the researcher, as a nurse, can share their agony and grief through identification of their inner world through in-depth personal interviews. The results obtained in this study will not only help in the development of family nursing practice for families with genetically transmitted diseases but also prepare basic data for family nursing practice in the Korean sociocultural context.

• Annals of Clinical Neurophysiology
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• 제19권2호
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• pp.141-144
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• 2017

In facioscapulohumeral muscular dystrophy (FSHD), prominent inflammatory cellular infiltrates mimicking inflammatory myopathies are often observed in muscle biopsies. We report extensive inflammatory changes in a 16-year-old girl who was genetically confirmed as to have FSHD. Immunohistochemical staining revealed that this could be clearly distinguished from inflammatory myopathies, both in terms of cell subsets and the expression of antigenic targets. Our observations strongly suggest that the inflammatory cellular infiltrates in FSHD differ from those observed in inflammatory myopathies.

• Annals of Clinical Neurophysiology
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• 제20권2호
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• pp.89-92
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• 2018

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

• 대한소아치과학회지
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• 제40권1호
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• pp.66-71
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• 2013

근이영양증은 점진적인 근육 약화를 특징으로 하는 유전질환이다. 그 중 후쿠야마 선천성 근이영양증은 상염색체 열성으로 유전되며, 영아기 초기부터 시작되어 중추신경계, 안면근 등에도 이환되고 다발성 관절구축도 나타난다. 근이영양증 환자는 호흡기계나 심장 등의 합병증 발생 위험이 있으며, 특히 흡입마취제를 이용한 전신마취 시 악성고열증 가능성이 문제가 된다. 본 증례에서는 후쿠야마 선천성 근이영양증을 가진 3세 9개월 여아의 다발성 우식증을 전정맥마취 하에 치료하였다. 전신마취 유도 및 유지를 위해 프로포폴을 효과처 농도 $3{\sim}3.5{\mu}g/mL$, 진통 효과를 위해 레미펜타닐을 1.5 ng/mL 목표농도 조절주입하였다. 적절한 마취 심도와 안정적인 생징후를 유지하며 합병증 발생없이, 후쿠야마 선천성 근이영양증 환아의 전정맥마취하 다발성 치아우식 치료가 성공적으로 이루어져 이를 보고하고자 한다.

• Clinical and Experimental Pediatrics
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• 제60권6호
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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.

• Clinical and Experimental Pediatrics
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• 제51권12호
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• pp.1295-1299
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• 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 muscular dystrophy in children and its genetics and general management.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.27-33
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• 2020

Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial aggregates, prenatal diagnosis is an important role in the management of DMD family. We present our experience of prenatal molecular diagnosis and carrier detection based on multiplex polymerase chain reaction (PCR), multiplex ligation-dependent probe amplification (MLPA), and linkage analysis. Materials and Methods: During study period, 34 cases of prenatal diagnosis and 21 cases of carrier detection were performed at the Seoul National University Hospital. Multiplex PCR and MLPA was used to detect the exon deletions or duplications. When the DMD pathogenic variant in the affected males is unknown and no DMD pathogenic variant is detected in atrisk females, linkage analysis was used. Results: The prenatal molecular diagnosis was offered to 34 fetuses. Twenty-five fetuses were male and 6 fetuses (24.0%) were affected. Remaining cases had no pathogenic mutation. We had 24 (80.0%) cases of known proband results; exon deletion mutation in 19 (79.2%) cases and duplication in 5 (20.8%) cases. Linkage analysis was performed in 4 cases in which 2 cases (50.0%) were found to be affected. In the carrier testing, among 21 cases including 15 cases of mother and 6 cases of female relative, 9 (42.9%) cases showed positive results and 12 (57.1%) cases showed negative results. Conclusion: Prenatal molecular diagnosis and carrier detection of DMD are effective and feasible. They are useful in genetic counseling for DMD families.

• Clinical and Experimental Pediatrics
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• 제53권5호
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• pp.657-660
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• 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 because the patient had an unusual presentation of spinal tuberculosis.

• Annals of Clinical Neurophysiology
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• 제12권1호
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• pp.27-31
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• 2010

Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness, distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1, COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study.