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diagnosis and screening for DMD

Shimaa Eissa, Nawal Alshehri, Anas M Abdel Rahman, Majed Dasouki, Khalid M Abu Salah, Mohammed Zourob
Spinal muscular atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations in the survival motor neuron (SMN) 1 gene which encodes the SMN protein. Currently, definitive diagnosis relies on the demonstration of biallelic pathogenic variants in SMN1 gene. Therefore, there is an urgent unmet need to accurately quantify SMN protein levels for screening and therapeutic monitoring of symptomatic newborn and SMA patients, respectively. Here, we developed a voltammetric immunosensor for the sensitive detection of SMN protein based on covalently functionalized carbon nanofiber-modified screen printed electrodes...
October 10, 2017: Biosensors & Bioelectronics
Fumi Takeuchi, Hirofumi Komaki, Zentaro Yamagata, Kazushi Maruo, Sunil Rodger, Janbernd Kirschner, Takeo Kubota, En Kimura, Shin'ichi Takeda, Kathrin Gramsch, Julia Vry, Kate Bushby, Hanns Lochmüller, Keiji Wada, Harumasa Nakamura
Early diagnosis of Duchenne muscular dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. Genetic testing now allows the diagnosis of DMD even prior to the onset of symptoms. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis. We analysed 64 young boys (Japan, 19; the United Kingdom, 10; Germany, 18; Hungary, 6; Poland, 5; and the Czech Republic, 6) aged <5 years and diagnosed at ≤2 years old among the participants of the cross-sectional study about care practice in DMD...
July 6, 2017: Neuromuscular Disorders: NMD
Domenico D'Amario, Antonio Amodeo, Rachele Adorisio, Francesco Danilo Tiziano, Antonio Maria Leone, Gianluigi Perri, Piergiorgio Bruno, Massimo Massetti, Alessandra Ferlini, Marika Pane, Giampaolo Niccoli, Italo Porto, Gianluca A D'Angelo, Josip Anđelo Borovac, Eugenio Mercuri, Filippo Crea
Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence...
November 2017: Heart: Official Journal of the British Cardiac Society
Qing Ke, Zheng-Yan Zhao, Robert Griggs, Veronica Wiley, Anne Connolly, Jennifer Kwon, Ming Qi, Daniel Sheehan, Emma Ciafaloni, R Rodney Howell, Petra Furu, Peter Sazani, Arvind Narayana, Michele Gatheridge
BACKGROUND: Newborn screening for Duchenne muscular dystrophy (DMD) is currently being initiated in Zhejiang Province, China and is under consideration in other countries, including the United States. As China begins to implement DMD newborn screening (DMD-NBS), there is ongoing discussion regarding the steps forward for follow up care of positively identified patients as well as false positive and false negative results. DATA SOURCES: Relevant papers related to DMD-NBS, and NBS in China were reviewed in PubMed...
June 2017: World Journal of Pediatrics: WJP
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 non-insertional spontaneous activity (SA), with the exception of endplate activity, is an unequivocal sign of abnormality and is one of the most useful findings obtained 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 (CRDs) occurred more frequently than fibrillation potentials (fibs) and positive sharp waves (PSWs) in centronuclear myopathy (CNM) and limb-girdle muscular dystrophy type 2A (LGMD-2A), whereas fibs/PSWs were observed more often in desminopathy and facioscapulohumeral dystrophy (FSHD)...
September 2017: 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...
June 2017: 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...
May 2017: 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
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