Literature DB >> 26966795

Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.

Emma Ciafaloni1, Anil Kumar2, Ke Liu3, Shree Pandya1, Christina Westfield2, Deborah J Fox2, Kristin M Caspers Conway3, Christopher Cunniff4, Katherine Mathews3, Nancy West5, Paul A Romitti3, Michael P McDermott1.   

Abstract

PURPOSE: We investigated the prognostic utility of onset age at first signs and symptoms (SS) to predict onset age at loss of ambulation (LOA) for childhood-onset Duchenne and Becker Muscular Dystrophies (DBMD).
METHODS: Our cohort comprised male cases with DBMD ascertained by the population-based Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Adjusted hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using Cox proportional hazards models for associations between onset ages of first SS and LOA. Covariates controlled for were corticosteroid use, family history of DBMD, birth year, race/ethnicity, and MD STARnet site. Onset age at first SS was considered as a continuous and as a categorical variable.
RESULTS: A one-year increase in onset age at first SS was significantly associated with a 10% reduction in annual risk of LOA (HR = 0.90, CI = 0.87-0.94). Treating onset age at first SS as a categorical variable yielded a similar association (≥ 5 years: referent; ≥ 3 to < 5 years: HR = 1.36, CI = 1.02-1.81; 18 months to < 3 years: HR = 1.72, CI = 1.31-2.26; < 18 months: HR = 1.52, CI = 1.14-2.02).
CONCLUSIONS: Earlier onset age at first SS is associated with earlier onset age at LOA and may have clinical utility in differentiating childhood-onset Duchenne and Becker muscular dystrophies.

Entities:  

Keywords:  Becker Muscular Dystrophy; Duchenne Muscular Dystrophy; ambulation

Mesh:

Year:  2016        PMID: 26966795      PMCID: PMC5868738          DOI: 10.3233/PRM-160361

Source DB:  PubMed          Journal:  J Pediatr Rehabil Med        ISSN: 1874-5393


  21 in total

1.  Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.

Authors:  Luca Bello; Luisa Piva; Andrea Barp; Antonella Taglia; Esther Picillo; Gessica Vasco; Marika Pane; Stefano C Previtali; Yvan Torrente; Elisabetta Gazzerro; Maria Chiara Motta; Gaetano S Grieco; Sara Napolitano; Francesca Magri; Adele D'Amico; Guja Astrea; Sonia Messina; Maria Sframeli; Gian Luca Vita; Patrizia Boffi; Tiziana Mongini; Alessandra Ferlini; Francesca Gualandi; Gianni Soraru'; Mario Ermani; Giuseppe Vita; Roberta Battini; Enrico Bertini; Giacomo P Comi; Angela Berardinelli; Carlo Minetti; Claudio Bruno; Eugenio Mercuri; Luisa Politano; Corrado Angelini; Eric P Hoffman; Elena Pegoraro
Journal:  Neurology       Date:  2012-06-27       Impact factor: 9.910

2.  Prevalence of Duchenne and Becker muscular dystrophies in the United States.

Authors:  Paul A Romitti; Yong Zhu; Soman Puzhankara; Katherine A James; Sarah K Nabukera; Gideon K D Zamba; Emma Ciafaloni; Christopher Cunniff; Charlotte M Druschel; Katherine D Mathews; Dennis J Matthews; F John Meaney; Jennifer G Andrews; Kristin M Caspers Conway; Deborah J Fox; Natalie Street; Melissa M Adams; Julie Bolen
Journal:  Pediatrics       Date:  2015-02-16       Impact factor: 7.124

Review 3.  Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

Authors:  Annemieke Aartsma-Rus; Judith C T Van Deutekom; Ivo F Fokkema; Gert-Jan B Van Ommen; Johan T Den Dunnen
Journal:  Muscle Nerve       Date:  2006-08       Impact factor: 3.217

4.  SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.

Authors:  E Pegoraro; E P Hoffman; L Piva; B F Gavassini; S Cagnin; M Ermani; L Bello; G Soraru; B Pacchioni; M D Bonifati; G Lanfranchi; C Angelini; A Kesari; I Lee; H Gordish-Dressman; J M Devaney; C M McDonald
Journal:  Neurology       Date:  2010-12-22       Impact factor: 9.910

Review 5.  Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management.

Authors:  Richard T Moxley; Shree Pandya; Emma Ciafaloni; Deborah J Fox; Kim Campbell
Journal:  J Child Neurol       Date:  2010-06-25       Impact factor: 1.987

6.  The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology.

Authors:  Lisa A Miller; Paul A Romitti; Christopher Cunniff; Charlotte Druschel; Katherine D Mathews; F John Meaney; Dennis Matthews; Jiji Kantamneni; Zhen-Fang Feng; Nancy Zemblidge; Timothy M Miller; Jennifer Andrews; Deborah Fox; Emma Ciafaloni; Shree Pandya; April Montgomery; Aileen Kenneson
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2006-11

7.  Assessment of muscle strength in Duchenne muscular dystrophy.

Authors:  F A Ziter; K G Allsop; F H Tyler
Journal:  Neurology       Date:  1977-10       Impact factor: 9.910

8.  Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

Authors:  Francesca Magri; Alessandra Govoni; Maria Grazia D'Angelo; Roberto Del Bo; Serena Ghezzi; Gandossini Sandra; Anna Carla Turconi; Monica Sciacco; Patrizia Ciscato; Andreina Bordoni; Silvana Tedeschi; Francesco Fortunato; Valeria Lucchini; Sara Bonato; Costanza Lamperti; Domenico Coviello; Yvan Torrente; Stefania Corti; Maurizio Moggio; Nereo Bresolin; Giacomo Pietro Comi
Journal:  J Neurol       Date:  2011-03-12       Impact factor: 4.849

9.  Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits.

Authors:  Richard T Wang; Cheri A Silverstein Fadlon; J Wes Ulm; Ivana Jankovic; Ascia Eskin; Ake Lu; Vanessa Rangel Miller; Rita M Cantor; Ning Li; Robert Elashoff; Anne S Martin; Holly L Peay; Nancy Halnon; Stanley F Nelson
Journal:  PLoS Curr       Date:  2014-10-17

10.  Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross sectional study.

Authors:  Sean C Forbes; Rebecca J Willcocks; William T Triplett; William D Rooney; Donovan J Lott; Dah-Jyuu Wang; Jim Pollaro; Claudia R Senesac; Michael J Daniels; Richard S Finkel; Barry S Russman; Barry J Byrne; Erika L Finanger; Gihan I Tennekoon; Glenn A Walter; H Lee Sweeney; Krista Vandenborne
Journal:  PLoS One       Date:  2014-09-09       Impact factor: 3.240

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  15 in total

Review 1.  CRISPR-Cas9 Gene Therapy for Duchenne Muscular Dystrophy.

Authors:  Cedric Happi Mbakam; Gabriel Lamothe; Guillaume Tremblay; Jacques P Tremblay
Journal:  Neurotherapeutics       Date:  2022-02-14       Impact factor: 6.088

2.  Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using Data from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet).

Authors:  Jennifer G Andrews; Molly M Lamb; Kristin M Conway; Natalie Street; Christina Westfield; Emma Ciafaloni; Dennis Matthews; Shree Pandya
Journal:  J Neuromuscul Dis       Date:  2022

3.  Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.

Authors:  ThuyQuynh N Do; Natalie Street; Jennifer Donnelly; Melissa M Adams; Christopher Cunniff; Deborah J Fox; Richard O Weinert; Joyce Oleszek; Paul A Romitti; Christina P Westfield; Julie Bolen
Journal:  Birth Defects Res       Date:  2018-08-02       Impact factor: 2.344

Review 4.  A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017.

Authors:  Kashika M Sahay; Tiffany Smith; Kristin M Conway; Paul A Romitti; Molly M Lamb; Jennifer Andrews; Shree Pandya; Joyce Oleszek; Christopher Cunniff; Rodolfo Valdez
Journal:  J Child Neurol       Date:  2018-10-22       Impact factor: 1.987

5.  Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.

Authors:  Gregory Haber; Kristin M Conway; Pangaja Paramsothy; Anindya Roy; Hobart Rogers; Xiang Ling; Nicholas Kozauer; Natalie Street; Paul A Romitti; Deborah J Fox; Han C Phan; Dennis Matthews; Emma Ciafaloni; Joyce Oleszek; Katherine A James; Maureen Galindo; Nedra Whitehead; Nicholas Johnson; Russell J Butterfield; Shree Pandya; Swamy Venkatesh; Venkatesh Atul Bhattaram
Journal:  Muscle Nerve       Date:  2020-11-17       Impact factor: 3.852

6.  Direct costs of adhering to selected Duchenne muscular dystrophy Care Considerations: Estimates from a midwestern state.

Authors:  Kristin M Conway; Scott D Grosse; Lijing Ouyang; Natalie Street; Paul A Romitti
Journal:  Muscle Nerve       Date:  2022-02-09       Impact factor: 3.852

7.  Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.

Authors:  Eugenio Mercuri; Francesco Muntoni; Andrés Nascimento Osorio; Már Tulinius; Filippo Buccella; Lauren P Morgenroth; Heather Gordish-Dressman; Joel Jiang; Panayiota Trifillis; Jin Zhu; Allan Kristensen; Claudio L Santos; Erik K Henricson; Craig M McDonald; Isabelle Desguerre
Journal:  J Comp Eff Res       Date:  2020-01-30       Impact factor: 1.744

8.  Mitochondrial hydrogen sulfide supplementation improves health in the C. elegans Duchenne muscular dystrophy model.

Authors:  Rebecca A Ellwood; Jennifer E Hewitt; Roberta Torregrossa; Ashleigh M Philp; Justin P Hardee; Samantha Hughes; David van de Klashorst; Nima Gharahdaghi; Taslim Anupom; Luke Slade; Colleen S Deane; Michael Cooke; Timothy Etheridge; Mathew Piasecki; Adam Antebi; Gordon S Lynch; Andrew Philp; Siva A Vanapalli; Matthew Whiteman; Nathaniel J Szewczyk
Journal:  Proc Natl Acad Sci U S A       Date:  2021-03-02       Impact factor: 11.205

9.  Lifetime analysis of mdx skeletal muscle reveals a progressive pathology that leads to myofiber loss.

Authors:  Ryan T Massopust; Young Il Lee; Anna L Pritchard; Van-Khoa M Nguyen; Dylan A McCreedy; Wesley J Thompson
Journal:  Sci Rep       Date:  2020-10-14       Impact factor: 4.379

10.  Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients.

Authors:  Xinguo Lu; Chunxi Han; Jiahui Mai; Xianping Jiang; Jianxiang Liao; Yanqi Hou; Di Cui
Journal:  Front Genet       Date:  2021-04-16       Impact factor: 4.599

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