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diagnosis and screening for DMD

Monika Nojszewska, Malgorzata Gawel, Elzbieta Szmidt-Salkowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Lusakowska, Biruta Kierdaszuk, Marta Lipowska, Anna Macias, Damian Gawel, Andrzej Seroka, Anna M Kaminska
INTRODUCTION: Reproducible noninsertional spontaneous activity (SA), with the exception of end-plate activity, is an unequivocal sign of abnormality and is one of the most useful findings on electromyography. METHODS: In this retrospective study we analyzed occurrence and distribution of abnormal SA in 151 patients with genetically confirmed myopathies. RESULTS: Complex repetitive discharges (CRD) occurred more frequently than fibrillation potentials (fibs) and positive sharp waves (PSW) in centronuclear myopathy (CNM) and limb-girdle muscular dystrophy type 2A (LGMD-2A), whereas fib/PSW were observed more often in desminopathy and facioscapulohumeral dystrophy (FSHD)...
December 21, 2016: Muscle & Nerve
Nicolas Audag, Christophe Goubau, Michel Toussaint, Gregory Reychler
AIM: Dysphagia is frequent in paediatric patients with neuromuscular diseases (pNMD). Its detection is important for initiating early diagnosis and treatment as well as for minimizing related complications. The aim of this study was to review the literature on dysphagia screening and evaluation tools in pNMD. METHOD: A systematic review was performed on the basis of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Three databases (PubMed, CINAHL, and ScienceDirect) were searched...
December 9, 2016: Developmental Medicine and Child Neurology
N Hamasaki-Katagiri, B C Lin, J Simon, R C Hunt, T Schiller, E Russek-Cohen, A A Komar, H Bar, C Kimchi-Sarfaty
INTRODUCTION: Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for the generation of large mutation databases which provide unparalleled insight into genotype-phenotype relationships. Haemophilia is associated with inversions, deletions, insertions, nonsense and missense mutations. Both synonymous and non-synonymous mutations influence the base pairing of messenger RNA (mRNA), which can alter mRNA structure, cellular half-life and ribosome processivity/elongation...
January 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
Roxanna M Bendixen, Amy Houtrow
PURPOSE: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with no known cure. We sought to update over 30 years of research reporting on the diagnostic delays in DMD. METHODS: Through personal interviews, this study qualitatively explored parents' experiences regarding receipt of the DMD diagnosis and the guidance for care provided. Thematic analysis identified themes and provided answers to the research questions being addressed. RESULTS: Four themes emerged: (a) Dismissive illustrates little consideration of parent concern in the diagnostic process; (b) Limited Knowledge describes misunderstandings about clinical signs, recommended screenings, and testing to achieve a diagnosis of DMD; (c) Careless Delivery reports on the manner in which the diagnosis was given; and (d) Lack of Guidance describes the follow-up that occurred after the diagnosis...
October 12, 2016: Journal of Pediatric Health Care
Laura A Bertrand, Eric J Askeland, Katherine D Mathews, Bradley A Erickson, Christopher S Cooper
INTRODUCTION: Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) are characterized by progressive muscle weakness and eventual loss of ambulation, and result from mutations in the dystrophin gene. Dystrophin is essential for skeletal muscle functioning but its role in smooth muscle function is not as well established. In a retrospective review, our group previously demonstrated that roughly half of these patients have at least one documented urologic diagnosis, most commonly being lower urinary tract symptoms (LUTS) and nephrolithiasis...
December 2016: Journal of Pediatric Urology
Leonela N Luce, Viviana Dalamon, Marcela Ferrer, Diana Parma, Irene Szijan, Florencia Giliberto
Dystrophinopathies are X-linked recessive diseases caused by mutations in the DMD gene. Our objective was to identify mutations in this gene by Multiplex Ligation Probe Amplification (MLPA), to confirm the clinical diagnosis and determine the carrier status of at-risk relatives. Also, we aimed to characterize the Dystrophinopathies argentine population and the DMD gene. We analyzed a cohort of 121 individuals (70 affected boys, 11 symptomatic women, 37 at-risk women and 3 male villus samples). The MLPA technique identified 56 mutations (45 deletions, 9 duplications and 2 point mutations)...
June 15, 2016: Journal of the Neurological Sciences
Jennifer M Kwon, Hoda Z Abdel-Hamid, Samiah A Al-Zaidy, Jerry R Mendell, Annie Kennedy, Kathi Kinnett, Valerie A Cwik, Natalie Street, Julie Bolen, John W Day, Anne M Connolly
New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up...
August 2016: Muscle & Nerve
Dror Kraus, Brenda L Wong, Paul S Horn, Ajay Kaul
OBJECTIVES: To determine the prevalence and clinical characteristics of constipation among patients with Duchenne muscular dystrophy (DMD). STUDY DESIGN: This cross-sectional prospective study included 120 patients (age range 5-30 years old) with an established diagnosis of DMD. Participants filled out the constipation section of a validated Questionnaire on Pediatric Gastrointestinal Symptoms based on Rome-III Criteria (QPGS-RIII) for the diagnosis of functional constipation as part of a routine clinic visit...
April 2016: Journal of Pediatrics
Michele A Gatheridge, Jennifer M Kwon, Jerry M Mendell, Günter Scheuerbrandt, Stuart J Moat, François Eyskens, Cheryl Rockman-Greenberg, Anthi Drousiotou, Robert C Griggs
IMPORTANCE: Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves outcomes and on new genetic therapies that require early diagnosis for effectiveness. Elevated creatine kinase levels in the neonatal period are the initial screening marker in DMD newborn screening programs but is found in inherited muscle disorders other than DMD. Data are needed to inform protocols for future screening and follow-up testing and care in these patients...
January 2016: JAMA Neurology
Jeffrey Chung, Andrea L Smith, Sarah C Hughes, Gabriela Niizawa, Hoda Z Abdel-Hamid, Edwin W Naylor, Timothy Hughes, Paula R Clemens
INTRODUCTION: An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995. METHODS: For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed. RESULTS: All patients and most parents supported NBS for DMD and BMD...
April 2016: Muscle & Nerve
Michele A Scully, Philip M Farrell, Emma Ciafaloni, Robert C Griggs, Jennifer M Kwon
Congenital neuromuscular disorders, such as Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and Pompe disease (acid maltase deficiency [AMD]), are candidates for universal newborn screening (NBS). In this article, we discuss the future path of NBS for these disorders with particular emphasis on DMD NBS, because of the likely approval of new gene-modifying treatments, the possible benefits of earlier treatment with corticosteroids, and the recently demonstrated feasibility of a 2-tiered approach to NBS with screening by creatine kinase (CK) levels in dried blood spots followed by mutation detection in those with elevated CK...
February 2015: Annals of Neurology
Babi Ramesh Reddy Nallamilli, Arunkanth Ankala, Madhuri Hegde
Duchenne Muscular Dystrophy (DMD) is an X-linked inherited neuromuscular disorder caused by mutations in the dystrophin gene (DMD; locus Xp21.2). The mutation spectrum of DMD is unique in that 65% of causative mutations are intragenic deletions, with intragenic duplications and point mutations (along with other sequence variants) accounting for 6% to 10% and 30% to 35%, respectively. The strategy for molecular diagnostic testing for DMD involves initial screening for deletions/duplications using microarray-based comparative genomic hybridization (array-CGH) followed by full-sequence analysis of DMD for sequence variants...
2014: Current Protocols in Human Genetics
Chen Chen, Hongwei Ma, Feng Zhang, Lu Chen, Xuesha Xing, Shusen Wang, Xue Zhang, Yang Luo
Duchenne muscular dystrophy (DMD) is a common X-linked recessive disease of muscle degeneration and death. In order to provide accurate and reliable genetic counseling and prenatal diagnosis, we screened DMD mutations in a cohort of 119 Chinese patients using multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) followed by Sanger sequencing. In these unrelated DMD patients, we identified 11 patients with DMD small mutations (9.2%) and 81 patients with DMD deletions/duplications (del/dup) (68...
2014: PloS One
Henriette J A van Ruiten, Volker Straub, Kate Bushby, Michela Guglieri
BACKGROUND: Over the last 30 years, there has been little improvement in the age of diagnosis of Duchenne muscular dystrophy (DMD) (mean age of 4.5-4.11 years). AIM: To review the diagnostic process for DMD in boys without a family history in order to identify where delays occur and suggest areas for improvement. DESIGN: A retrospective case note review. SETTING: A tertiary centre for neuromuscular diseases in England...
December 2014: Archives of Disease in Childhood
Jeremy Rouillon, Aleksandar Zocevic, Thibaut Leger, Camille Garcia, Jean-Michel Camadro, Bjarne Udd, Brenda Wong, Laurent Servais, Thomas Voit, Fedor Svinartchouk
Diagnosis of muscular dystrophies is currently based on invasive methods requiring muscle biopsies or blood tests. The aim of the present study was to identify urinary biomarkers as a diagnostic tool for muscular dystrophies. Here, the urinary proteomes of Duchenne muscular dystrophy (DMD) patients and healthy donors were compared with a bottom-up proteomic approach. Label-free analysis of more than 1100 identified proteins revealed that 32 of them were differentially expressed between healthy controls and DMD patients...
July 2014: Neuromuscular Disorders: NMD
Minh-Hieu Ta, Thinh Huy Tran, Ngoc-Hai Do, Le Anh-Tuan Pham, The-Hung Bui, Van-Thanh Ta, Van-Khanh Tran
OBJECTIVE: Since there is no effective curative treatment for Duchenne muscular dystrophy (DMD), prevention mostly depends on genetic counseling and prenatal diagnosis. About two-thirds of the affected patients have large deletions or duplications, which can be detected by multiplex ligation-dependent amplification (MLPA). The remaining cases include small mutations, which cannot be easily identified by routine techniques. In such cases, linkage analysis may be a useful tool for prenatal diagnosis...
December 2013: Taiwanese Journal of Obstetrics & Gynecology
Molly F Wood, Sarah C Hughes, Lauren P Hache, Edwin W Naylor, Hoda Z Abdel-Hamid, M Michael Barmada, Steven F Dobrowolski, David E Stickler, Paula R Clemens
INTRODUCTION: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). METHODS: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history...
June 2014: Muscle & Nerve
Qing Li, Shao-ying Li, Hui-min Zhang, Wen-zhi He, Xiao-yan Ma, Xiao-man Wang, Jia-jia Xian, Xiao-fang Sun, Dun-jin Chen, Yan-hong Yu
OBJECTIVE: To investigate the clinical value of multiplex ligation-dependent probe amplification (MLPA) in the prenatal gene diagnosis of high risk pregnant women from Duchenne muscular dystrophy (DMD) families. METHODS: The 155 high risk pregnant women from DMD families were recruited from 2005 to 2012 in 4 hospitals in Guangzhou, such as Southern Hospital of Southern Medical University and the Third Affiliated Hospital of Guangzhou Medical University. Among all the samples, 7 were chorionic villus samples taken from early-stage pregnancy and 148 were amniotic fluid samples from mid-stage pregnancy...
March 2013: Zhonghua Fu Chan Ke za Zhi
Ting Zhang, Shaoji Liu, Tianying Wei, Jing Yong, Yuchan Mao, Xiaomei Lu, Jiansheng Xie, Qing Ke, Fan Jin, Ming Qi
BACKGROUND: To develop a comprehensive method to analyze deletions or duplications of the dystrophin gene in both patients and carriers of Duchenne muscular dystrophy (DMD), likewise applied to prenatal diagnosis. METHODS: A total of thirty Chinese families were recruited, composed of 29 DMD affected males and 38 female relatives containing four pregnant women. Deletions were previously screened by multiplex PCR. A comprehensive real-time PCR assay using SYBR Green I dye was performed for the initial detection of duplications in patients with a seven-exon primer set, carrier detection for female relatives and prenatal diagnosis for the 4 of them...
September 23, 2013: Clinica Chimica Acta; International Journal of Clinical Chemistry
Renate Marquis-Nicholson, Daniel Lai, Chuan-Ching Lan, Jennifer M Love, Donald R Love
Purpose. The aim of this study was to develop a streamlined mutation screening protocol for the DMD gene in order to confirm a clinical diagnosis of Duchenne or Becker muscular dystrophy in affected males and to clarify the carrier status of female family members. Methods. Sequence analysis and array comparative genomic hybridization (aCGH) were used to identify mutations in the dystrophin DMD gene. We analysed genomic DNA from six individuals with a range of previously characterised mutations and from eight individuals who had not previously undergone any form of molecular analysis...
2013: ISRN Neurology
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