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https://www.readbyqxmd.com/read/28533764/serum-creatinine-distinguishes-duchenne-muscular-dystrophy-from-becker-muscular-dystrophy-in-patients-aged-%C3%A2-3-years-a-retrospective-study
#1
Liang Wang, Menglong Chen, Ruojie He, Yiming Sun, Juan Yang, Lulu Xiao, Jiqing Cao, Huili Zhang, Cheng Zhang
Here, we investigated correlations between serum creatinine (SCRN) levels and clinical phenotypes of dystrophinopathy in young patients. Sixty-eight patients with dystrophinopathy at the Neuromuscular Clinic, The First Affiliated Hospital, Sun Yat-sen University, were selected for this study. The diagnosis of dystrophinopathy was based on clinical manifestation, biochemical changes, and molecular analysis. Some patients underwent muscle biopsies; SCRN levels were tested when patients were ≤3 years old, and reading frame changes were analyzed...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28492933/myocardial-fibrosis-in-duchenne-and-becker-muscular-dystrophy-reply
#2
Marly Conceição Silva, Clerio Francisco Azevedo, Carlos Eduardo Rochitte
No abstract text is available yet for this article.
May 10, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28492916/myocardial-fibrosis-in-duchenne-and-becker-muscular-dystrophy
#3
Robert C Bahler
No abstract text is available yet for this article.
May 10, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28484312/genetic-diagnosis-as-a-tool-for-personalized-treatment-of-duchenne-muscular-dystrophy
#4
REVIEW
Luca Bello, Elena Pegoraro
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28434908/duchenne-muscular-dystrophy-in-a-female-with-compound-heterozygous-contiguous-exon-deletions
#5
Eri Takeshita, Narihiro Minami, Kumiko Minami, Mikiya Suzuki, Takeya Awashima, Akihiko Ishiyama, Hirofumi Komaki, Ichizo Nishino, Masayuki Sasaki
Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indistinguishable from that of a male DMD patient, and who possessed compound heterozygous contiguous exon deletions in the dystrophin gene. She exhibited Gowers' sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years...
June 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28427100/dystrophinopathies-and-limb-girdle-muscular-dystrophies
#6
Joana Domingos, Anna Sarkozy, Mariacristina Scoto, Francesco Muntoni
Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's and Becker's muscular dystrophies, but in reality they are a spectrum of muscle diseases caused by mutations in the gene that encodes the protein dystrophin. Duchenne's muscular dystrophy is the most common form of inherited muscle disease of childhood...
April 20, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28395534/application-of-the-international-classification-of-functioning-disability-and-health-system-to-symptoms-of-the-duchenne-and-becker-muscular-dystrophies
#7
Kristin M Conway, Emma Ciafaloni, Dennis Matthews, Chris Westfield, Kathy James, Pangaja Paramsothy, Paul A Romitti
PURPOSE: Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to examine functional health. MATERIALS AND METHODS: The infrastructure of the Muscular Dystrophy Surveillance, Tracking, and Research Network was used to identify commonly affected body functions and link selected functions to clinical surveillance data collected through medical record abstraction...
April 11, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28393671/secondary-conditions-among-males-with-duchenne-or-becker-muscular-dystrophy
#8
Rebecca Latimer, Natalie Street, Kristin Caspers Conway, Kathy James, Christopher Cunniff, Joyce Oleszek, Deborah Fox, Emma Ciafaloni, Christina Westfield, Pangaja Paramsothy
Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred nine caregivers of affected males (aged 3-31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The 5 most commonly reported conditions in males with Duchenne were cognitive deficits (38...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28393376/cardiac-involvement-in-female-carriers-of-duchenne-or-becker-muscular-dystrophy
#9
EDITORIAL
Martin K Childers, Jordan M Klaiman
No abstract text is available yet for this article.
June 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28390761/the-aav-mediated-and-rna-guided-crispr-cas9-system-for-gene-therapy-of-dmd-and-bmd
#10
REVIEW
Jing-Zhang Wang, Peng Wu, Zhi-Min Shi, Yan-Li Xu, Zhi-Jun Liu
Mutations in the dystrophin gene (Dmd) result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), which afflict many newborn boys. In 2016, Brain and Development published several interesting articles on DMD treatment with antisense oligonucleotide, kinase inhibitor, and prednisolone. Even more strikingly, three articles in the issue 6271 of Science in 2016 provide new insights into gene therapy of DMD and BMD via the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)...
April 5, 2017: Brain & Development
https://www.readbyqxmd.com/read/28361653/hand-function-in-muscular-dystrophies
#11
Mariana C Artilheiro, Cristina Dos Santos Cardoso de Sá, Francis M Fávero, Hanna C Wutzki, Maria Bernadete Dutra de Resende, Fátima A Caromano, Mariana C Voos
The aim of this study was to investigate the relationship between Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT) to assess and monitor upper limb function progression in patients with muscular dystrophy. Thirty patients diagnosed with Duchenne muscular dystrophy, limb-girdle muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy Type 1, and fascioscapulohumeral dystrophy were submitted to the shoulder, elbow, and wrist domains of PUL, and to JTT subtests. Spearman tests investigated the relationships between PUL and JTT total scores and domains...
April 2017: Perceptual and Motor Skills
https://www.readbyqxmd.com/read/28344439/family-context-in-muscular-dystrophies-psychosocial-aspects-and-social-integration
#12
Lorenza Magliano, Luisa Politano
Muscular dystrophies (MDs) are degenerative diseases which may led to marked functional impairment and reduced life expectancy. Being caregivers of a loved one with MD may be both a rewarding and a demanding experience that may have relevant impact on the quality of life of the whole family. In this short review we summarize the main findings of the first survey on family context in MD in Italy. The study was carried out on 502 key-relatives of patients suffering from Duchenne, Becker, or Limb-Girdle MD, aged between 4 and 25 years, and attending one of 8 participating Centers, all over 2012...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28332368/multiplex-ligation-dependent-probe-amplification-in-x-linked-recessive-muscular-dystrophy-in-korean-subjects
#13
Mi Ri Suh, Kyung A Lee, Eun Young Kim, Jiho Jung, Won Ah Choi, Seong Woong Kang
PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries. We analyzed multiplex ligation-dependent probe amplification (MLPA) data in a large number of Korean patients with DMD/BMD. MATERIALS AND METHODS: We obtained 130 positive MLPA results (86 DMD, 27 BMD, and 17 female carriers) from 272 candidates (237 clinically suspected patients and 35 possible female carriers) who took part in this study...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28316128/skewed-x-chromosome-inactivation-plays-a-crucial-role-in-the-onset-of-symptoms-in-carriers-of-becker-muscular-dystrophy
#14
Emanuela Viggiano, Esther Picillo, Manuela Ergoli, Alessandra Cirillo, Stefania Del Gaudio, Luisa Politano
BACKGROUND: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting about 1:18,000 male births. Female carriers are usually asymptomatic, but 2.5-18% may present muscle or heart symptoms. In the present work the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed in Duchenne muscular dystrophy (DMD) carriers. METHODS: XCI was determined on the lymphocytes of 36 BMD carriers - both symptomatic and not symptomatic - from 11 families requiring genetic advice at the Cardiomyology and Medical Genetics of the Second University of Naples, through the AR methylation-based assay...
March 18, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28288529/a-comparison-of-swallowing-dysfunction-in-becker-muscular-dystrophy-and-duchenne-muscular-dystrophy
#15
Yuka Yamada, Michiyuki Kawakami, Ayako Wada, Tomoyoshi Otsuka, Kaori Muraoka, Meigen Liu
PURPOSE: Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD. MATERIALS AND METHODS: The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined using videofluorography during swallowing of 5 mL of fluid. The penetration-aspiration scale (P-A scale) and the videofluorographic dysphagia scale (VDS) were used to evaluate dysphagia...
March 13, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28279643/follistatin-gene-therapy-for-sporadic-inclusion-body-myositis-improves-functional-outcomes
#16
Jerry R Mendell, Zarife Sahenk, Samiah Al-Zaidy, Louise R Rodino-Klapac, Linda P Lowes, Lindsay N Alfano, Katherine Berry, Natalie Miller, Mehmet Yalvac, Igor Dvorchik, Melissa Moore-Clingenpeel, Kevin M Flanigan, Kathleen Church, Kim Shontz, Choumpree Curry, Sarah Lewis, Markus McColly, Mark J Hogan, Brian K Kaspar
Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more than women, most commonly after age 50. Clinical features include weakness of the quadriceps, finger flexors, ankle dorsiflexors, and dysphagia. The distribution of weakness is similar to Becker muscular dystrophy, where we previously reported improvement following intramuscular injection of an isoform of follistatin (FS344) by AAV1. For this clinical trial, rAAV1...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28247318/a-rare-subclinical-or-mild-type-of-becker-muscular-dystrophy-caused-by-a-single-exon-48-deletion-of-the-dystrophin-gene
#17
Janusz G Zimowski, Jacek Pilch, Magdalena Pawelec, Joanna K Purzycka, Jolanta Kubalska, Karolina Ziora-Jakutowicz, Magdalena Dudzińska, Jacek Zaremba
In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation-a single exon 48 deletion of the dystrophin gene-who were affected with a very mild or subclinical form of BMD. They were usually detected thanks to accidental findings of elevated serum creatine phosphokinase (sCPK). A thorough clinical analysis of the carriers, both children (12) and adults (5), revealed in some of them muscle hypotonia (10/17) and/or very mild muscle weakness (9/17), as well as decreased tendon reflexes (6/17)...
February 28, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28219397/immunohistochemistry-of-sarcolemmal-membrane-associated-proteins-in-formalin-fixed-and-paraffin-embedded-skeletal-muscle-tissue-a-promising-tool-for-the-diagnostic-evaluation-of-common-muscular-dystrophies
#18
Chinnawut Suriyonplengsaeng, Charungthai Dejthevaporn, Chaiyos Khongkhatithum, Suda Sanpapant, Nattha Tubthong, Koset Pinpradap, Nippa Srinark, Jariya Waisayarat
BACKGROUND: The analysis of fresh frozen muscle specimens is standard following routine muscle biopsy, but this service is not widely available in countries with limited medical facilities, such as Thailand. Nevertheless, immunohistochemistry (IHC) analysis is essential for the diagnosis of patients with a strong clinical suspicion of muscular dystrophy, in the absence of mutations detected by molecular genetics. As the successful labelling of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded (FFPE) muscle sections using IHC staining has rarely been described, this study aimed to develop a reproducible IHC method for such an analysis...
February 20, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28195883/long-term-pediatric-ventricular-assist-device-therapy-a-case-report-of-2100-days-of-support
#19
Neha J Purkey, Aileen Lin, Jenna M Murray, Maryalice Gowen, Paul Shuttleworth, Katsuhide Maeda, Christopher S Almond, David N Rosenthal, Sharon Chen
Ventricular assist devices (VADs) have been placed as destination therapy in adults for over twenty years but have only recently been considered an option in a subset of pediatric patients. A 2016 report from the Pediatric Interagency Registry for Mechanical Circulatory Support (PediMACS) revealed only eight pediatric patients implanted as destination therapy. We report the case of an adolescent male with Becker Muscular Dystrophy (BMD) who underwent VAD placement in 2011 as bridge to candidacy. He subsequently decided to remain as destination therapy and so far has accrued over 2100 days on VAD support, the longest duration of pediatric VAD support reported in the literature to date...
February 9, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/28187773/perceived-quality-of-life-among-caregivers-of-children-with-a-childhood-onset-dystrophinopathy-a-double-abcx-model-of-caregiver-stressors-and-perceived-resources
#20
Natalia Frishman, Kristin Caspers Conway, Jennifer Andrews, Jacob Oleson, Katherine Mathews, Emma Ciafaloni, Joyce Oleszek, Molly Lamb, Dennis Matthews, Pangaja Paramsothy, Lowell McKirgan, Paul Romitti
BACKGROUND: Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are recessive X-linked disorders characterized by progressive muscle weakness and ultimately cardiac and respiratory failure. Immediate family members are often primary caregivers of individuals with a dystrophinopathy. METHODS: We explored the impact of this role by inviting primary caregivers (n = 209) of males diagnosed with childhood-onset dystrophinopathy who were identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to complete a mailed questionnaire measuring perceived social support and stress, spirituality, and family quality of life (FQoL)...
February 10, 2017: Health and Quality of Life Outcomes
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