• Journal of Genetic Medicine
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• 제10권2호
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• pp.94-98
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• 2013

Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제21권2호
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• pp.103-109
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• 2010

Objectives : The purpose of the current study was to evaluate subject quality of life in depressed parents of boys with Duchenne/Becker muscular dystrophy (DMB/ BMD). In addition, a specific relationship between subject quality of life and the severity of depressive symptom was explored. Methods : The participants were 15 depressed parents who had moderate to severe depressive symptoms and 35 nondepressed parents of boys with DMD/BMD. All participants completed the World Health Organization Quality Of Life Scale, Brief Version and the Beck Depression Inventory. Other instruments included the Family Relationship Scale and the Child Behavior Checklist. Results : Among various model predictors, only higher score on the Beck Depression Inventory predicted lower scores on all domains of the World Health Organization Quality Of Life Scale, Brief Version. In addition, depressed parents had significantly lower scores on all domains of the World Health Organization Quality Of Life Scale, Brief Version including physical health, psychological health, social relationships, and environment, relative to non-depressed parents. Conclusion : Findings of the current study suggest that all domains of subjective quality of life may be influenced by depressive symptoms in parents of boys with DMD/BMD.

• Archives of Reconstructive Microsurgery
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• 제25권2호
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• pp.75-78
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• 2016

The method of lower limb reconstruction surgery is selected based on a patient's underlying conditions, general conditions, and wound status, and it usually varies from direct closure to skin graft and flap coverage. Herein, we describe a patient with Duchenne muscular dystrophy who developed critical limb ischemia after femoral cannulation for extracorporeal membrane oxygenation was used during knee disarticulation, which was followed by reconstruction of the defect around the knee using a pedicled anterolateral thigh flap and skin graft.

• Molecules and Cells
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• 제19권1호
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• pp.155-155
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• 2005

• Journal of Genetic Medicine
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• 제14권2호
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• pp.75-79
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• 2017

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.

• 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.

• 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.

• 대한생식의학회:학술대회논문집
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• 대한불임학회 2005년도 제49차 추계학술대회
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• pp.110-110
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• 2005

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

• Clinical and Experimental Reproductive Medicine
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• 제32권1호
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• pp.17-26
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• 2005

Objective: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. In this study, we evaluated the efficacy of PGD for Duchenne muscular dystrophy (DMD) cases by the fluorescent PCR with polymorphic linked markers and the conventional duplex-nested PCR methods. Methods: Biopsy of one or two blastomeres was done from the embryos fertilized by ICSI on the third day after fertilization. We performed two cases of PGD-DMD by the duplex-nested PCR for the causative mutation loci and the SRY gene on Y chromosome. The triplex fluorescent PCR for the mutation loci, the SRY gene and the polymorphic microsatellite marker on X chromosome was applied for two cases of PGD-DMD. Results: By the duplex-nested PCR, successful diagnosis rate was 95.5% (21/22), but we could not discriminate the female embryos whether normal or carrier in this X-linked recessive disease. However, the triplex fluorescent PCR method showed 100% (27/27) of successful diagnosis rate, and all female embryos (n=17) were distinguished normal (n=10) from carrier (n=7) embryos. Unaffected and normal embryos were transferred into mother's uterus after diagnosis. A healthy normal male was achieved after PGD with the duplex-nested PCR method and a twin, a male and a female, were delivered with triplex fluorescent PCR method. The normality of dystrophin gene was confirmed by amniocentesis and postnatal genetic analysis in all offsprings. Conclusion: The fluorescent PCR with polymorphic marker might be useful in improving the specificity and reliability of PGD for single gene disorders.