• Journal of Genetic Medicine
• /
• v.17 no.1
• /
• pp.27-33
• /
• 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.

• Journal of Genetic Medicine
• /
• v.14 no.2
• /
• pp.75-79
• /
• 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.

• Archives of Reconstructive Microsurgery
• /
• v.25 no.2
• /
• pp.75-78
• /
• 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.

• 대한생식의학회:학술대회논문집
• /
• 2005.11a
• /
• pp.110-110
• /
• 2005

• Molecules and Cells
• /
• v.19 no.1
• /
• pp.155-155
• /
• 2005

• Physical Therapy Korea
• /
• v.16 no.3
• /
• pp.1-8
• /
• 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 Korean Journal of Legal Medicine
• /
• v.42 no.4
• /
• pp.159-163
• /
• 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.

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

• Journal of Genetic Medicine
• /
• v.2 no.1
• /
• pp.35-39
• /
• 1998

Duchenne/Becker muscular dystrophy are the major neuromuscular disorders with X-linked recessive inheritance. Preimplantation diagnosis of sex determination has been generally used to avoid male pregnancies with these diseases. However, in order to determine if the embryo is normal, carrier or affected regardless of the sex, there is a need for a combined analysis of specific exon on dystrophin gene as well as sex determination of embryo using the same biopsied blastomere. If the exon deletion is not determinable, further diagnosis of carrier or patient can be performed by haplotype analysis. In this study, we applied the primer extension preamplification (PEP) method, which amplifies the whole genome, in 40 cases of single amniocyte and 40 cases of chorionic villus cell. We analysed haplotypes using two (CA)n dinucleotide polymorphic markers located at the end of 5' and 3' region of the dystrophin gene. Exon 46 of dystrophin gene and DYZ3 on chromosome Y were chosen as a target sequence for coamplification PCR. Upon optimizing the conditions, the amplification rates were 91.25% (73/80) for haplotypes (92.5% in amniocyte, 90% in chorionic villus cell) and 88.75% (71/80) for coamplification (85% in amniocyte, 92.5% in chorionic villus cell). The result of the study indicates that haplotypes analysis and coamplification of dystrophin and Y-specific gene using PEP can be applied to prenatal and preimplantation diagnosis in Duchenne/Becker muscular dystrophy making it possible to determine if the fetus is a carrier or an affected one.

• Clinical and Experimental Pediatrics
• /
• v.57 no.5
• /
• pp.232-239
• /
• 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 MD and 42 with DMD. Using two-dimensional echocardiography, including time-motion (M) mode and Doppler measurements, we estimated the LV mass, ratio of early to late mitral filling velocities (E/A), ratio of early mitral filling velocity to early diastolic mitral annular velocity (E/Ea), stroke volume, and cardiac output. A "z score" was generated using the lambda-mu-sigma method to standardize the LV mass with respect to body size. Results: The LV mass-for-height z scores were significantly below normal in children with MD ($-1.02{\pm}1.52$, P<0.001) or DMD ($-0.82{\pm}1.61$, P =0.002), as were the LV mass-for-lean body-mass z scores. The body mass index (BMI)-for-age z scores were far below normal and were directly proportional to the LV mass-for-height z scores in both patients with MD (R =0.377, P<0.001) and those with DMD (R =0.330, P=0.033). The LV mass-for-height z score correlated positively with the stroke volume index (R =0.462, P<0.001) and cardiac index (R =0.358, P<0.001). Conclusion: LV myocardial atrophy is present in patients with MD and those with DMD and may be closely associated with low BMI. The insufficient LV mass for body size might indicate deterioration of systolic function in these patients.