• 제목/요약/키워드: Becker muscular dystrophy

검색결과 11건 처리시간 0.021초

듀센.베커 근이영양증 아동 부모의 우울과 삶의 질 (Depressive Symptoms and Subjective Quality of Life in Parents of Boys with Duchenne/Becker Muscular Dystrophy)

  • 황준원;구영진
    • 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.

Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy

  • Kim, Dahye;Kim, Yoon-Myung;Seo, Go Hun;Kim, Gu Hwan;Yoo, Han Wook;Yum, Mi-Sun;Ko, Tae-Sung;Lee, Beom Hee
    • 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.

Female Carriers of Duchenne Muscular Dystrophy

  • Cho, Yu Na;Choi, Young-Chul
    • 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.

A case of Becker muscular dystrophy with early manifestation of cardiomyopathy

  • Doo, Ki-Hyun;Ryu, Hye-Won;Kim, Seung-Soo;Lim, Byung-Chan;Hwang, Hui;Kim, Ki-Joong;Hwang, Yong-Seung;Chae, Jong-Hee
    • Clinical and Experimental Pediatrics
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    • 제55권9호
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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.

근이영양증으로 인한 사망의 사법부검 사례 경험: 증례 보고 (An Experience of Judicial Autopsy for a Death by Muscular Dystrophy: An Autopsy Case)

  • 김윤신;박지혜
    • 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.

Analysis of haplotype and coamplification PCR of dystrophin gene and Y-specific gene using PEP-PCR in single fetal cells

  • Choi, Soo-Kyung;Kim, Jin-Woo;Cho, Eun-Hee;Ryu, Hyun-Mee;Kang, Inn-Soo
    • Journal of Genetic Medicine
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    • 제2권1호
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    • pp.35-39
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    • 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.

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저긴장아 증후군 소아의 전기생리학적검사 결과: 10년간의 경험 (The Electrophysiologic Features of Pediatric Patients Presenting The Floppy Infant Syndrome: A 10-year Experience)

  • 석정임;주인수;이진수;김성환
    • Annals of Clinical Neurophysiology
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    • 제8권1호
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    • pp.36-39
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    • 2006
  • Background: Floppy infant syndrome has a number of different etiologies. Methods: One hundred twenty-three consecutive patients of floppy infant syndrome were included in this study. We reviewed all the electrophysiologic tests of these patients and the medical record of patients showing abnormalities in the electrophysiologic studies. Results: Of the 123 patients, twenty-six (21.1%) showed definite abnormalities in electrophysiologic tests; 8 myopathies, 14 neuropathies and 4 unclassified. The neuropathy was further classified as 5 neuronopathies and 9 sensorimotor polyneuropathies. With muscle or sural nerve biopsy and genetic test, a final diagnosis was made of Duchenne muscular dystrophy in 4, Becker muscular dystrophy in 1, spinal muscular atrophy in 2, and metachromatic leukodystrophy in 1. Conclusions: About 21% of patients presented with floppy infant syndrome showed abnormalities in the neuromuscular system. The electrophysiologic test is valuable to guide further investigations in diagnosing the cause of floppy infant syndrome.

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근이양증 가계에서의 PEP-PCR을 이용한 착상전 유전자진단 (Preimplantation Genetic Diagnosis Using Primer Extension Preamplification in Duchenne/Becker Muscular Dystrophy(DMD/BMD) Families)

  • 최수경;이은호;이호준;전진현;강인수;백은찬;류현미;전종영
    • Clinical and Experimental Reproductive Medicine
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    • 제23권1호
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    • pp.109-114
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    • 1996
  • General PCR technique alone has a limitation for preimplantation genetic diagnosis(PGD) using single blastomere. Recntly developed primer extension preamplification(PEP) technology amplifies the whole genome and thus, simultaneous multiple locus analysis became possible. In this study, we report the efficacy of PEP-PCR for PGD in three muscular dystrophy carriers undergoing IVF-ET. A total of 37 blastomeres were obtained from 40 embryos at six to eight cell stage in three IVF cycles in two DMD and one BMD carriers. Whole genome from single blastomeres were amplified using I5-base oligonucleotide random primers. PCR amplified products of exon 45 in the dystrophin gene and alphoid X/Y loci for gender determination were analysed by 2% metaphor gel electrophoresis. A total of 37 PEP-PCR replicates from 37 single blastomeres from 40 embryos and 37 blanks were performed. We obtained the reliable results for exon 45 and alphoid X/Y. Transfer of female embryos and unaffected male embryo was attempted in three couples. Unfortunately, pregnancy was not achieved in these cases. PEP-PCR is a reliable and efficient PGD method in multiple locus analysis using single blastomere.

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Dual Priming Oligonucleotide (DPO) system을 이용한 듀시엔/베커형 근이영양증 진단법 (Diagnostic testing for Duchenne/Becker Muscular dystrophy using Dual Priming Oligonucleotide (DPO) system)

  • 김주현;김구환;이진주;이대훈;김종기;유한욱
    • Journal of Genetic Medicine
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    • 제5권1호
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    • pp.15-20
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    • 2008
  • 목 적 : 듀시엔/베커형 근이영양증(Duchenne and Becker type muscular dystrophy; DMD/BMD)은 남아에게 나타나는 일반적인 X 염색체 연관 유전성 근육 질환으로 DMD(dystrophin) 유전자의 돌연변이로 인해 생긴다. 그 중 큰 exon 결실이 전체 DMD 환자의 약 50-60%에서 발견된다. 이 유전자의 돌연변이를 찾기 위해 여러 방법들이 사용되고 있지만 결실 돌연변이를 찾아내기 위한 가장 일반적인 방법으로 복합적 중합효소연쇄반응을 이용하고 있다. 하지만 이 방법의 단점은 하나의 시험관 안에 복합적인 시발체가 존재하여 정확한 반응 조건을 찾기 힘들 뿐 아니라 시발체 상호간의 간섭으로 중합효소 연쇄반응의 비특이적 생성물을 빈번하게 일으켜 잘못된 음성 또는 양성 결과를 가져올 수 있다. 이런 문제를 보완하고자 Dual Primer Oligonucleotide(DPO) 방법을 도입하였다. DPO는 polydeoxyinosine 연결에 의해 두 영역으로 분리된 올리고뉴클레오티드(oligonucleotide)로 표적 DNA 염기서열과의 교잡반응에 높은 특이적 반응을 보여 복합 중합효소 연쇄반응의 정확도를 높여준다. 본 연구에서는 3 그룹을 대상군으로 DMD 유전자의 결실돌연변이 검색을 위한 DPO-복합 중합효소 연쇄반응법의 특이성과 민감성을 알아보고자 하였다. 방 법 : 50명의 건강한 남자 대조군, 50명의 결실 돌연변이를 갖고 있는 양성반응 환자그룹 그리고 20명의 결실 돌연변이를 가지고 있지 않은 음성반응 환자 그룹으로 구성된 3 그룹을 대상으로 DPO-복합 중합효소 연쇄반응법을 이용하여 실험하였다. 이들 120명의 실험군 모두 PMter영역과 exon 3, 4, 6, 8, 12, 13, 17, 19, 43-48, 50-52, 60을 포함하는 18개의 exon에서의 결실의 여부와 결실 범위를 확인하였다. 결 과 : DPO-복합 중합효소 연쇄반응법은 결실 여부를 발견하는데 100%의 특이성과 민감성을 보였다. 하지만 결실 범위의 결정에는 97.1%의 민감성과 특이성을 보였다. 결 론 : DPO-복합 중합효소 연쇄반응법은 기존의 복합 중합효소 연쇄반응법 보다 높은 분석 확실성을 보일뿐 아니라 빠르고 저렴한 비용으로 쉽게 할 수 있기 때문에 듀시엔/베커형 근이영양증 환자의 DMD 유전자의 결실돌연변이 여부를 확인하는데 유용한 방법이다.

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