Journal ArticleDOI
Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort.
Ghilas Boussaïd,Ghilas Boussaïd,Frédéric Lofaso,Dante Brasil Santos,Isabelle Vaugier,Sandra Pottier,Hélène Prigent,David Orlikowski,Stéphane Bahrami +8 more
TLDR
Compliance with non-invasive ventilation is poor in patients with no subjective symptoms of respiratory failure, and it may be improved with appropriate education and follow-up.About:
This article is published in Neuromuscular Disorders.The article was published on 2016-10-01. It has received 31 citations till now. The article focuses on the topics: Prospective cohort study & Cohort.read more
Citations
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Journal ArticleDOI
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.
Salvatore Rossi,Giacomo Della Marca,Martina Ricci,Alessia Perna,Tommaso Nicoletti,Valerio Brunetti,Emiliana Meleo,Mariarosaria Calvello,Antonio Petrucci,Giovanni Antonini,Elisabetta Bucci,Loretta Licchelli,Cristina Sancricca,Roberto Massa,Emanuele Rastelli,Annalisa Botta,Antonio Di Muzio,Sonia Romano,Matteo Garibaldi,Gabriella Silvestri +19 more
TL;DR: A high prevalence of restrictive syndrome in DM1 cohort, mainly due to respiratory muscles weakness, was observed and documented; the severity of muscle impairment and the CTG expansion size confirmed to be independent predictors of respiratory restriction.
Journal ArticleDOI
Practical approach to respiratory emergencies in neurological diseases.
Fabrizio Racca,Andrea Vianello,Tiziana Mongini,Paolo Ruggeri,Antonio Versaci,Gian Luca Vita,Giuseppe Vita +6 more
TL;DR: Practical recommendations for prevention, recognition, management, and treatment of respiratory emergencies in neurological diseases, mostly in teenagers and adults, according to type and severity of baseline disease are provided.
Journal ArticleDOI
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
G. Gutiérrez Gutiérrez,Jordi Díaz-Manera,Miriam Almendrote,S. Azriel,J. Eulalio Bárcena,P. Cabezudo García,A. Camacho Salas,C Rodríguez,Cobo Am,P. Díaz Guardiola,Roberto Fernández-Torrón,M.P. Gallano Petit,P. García Pavía,M. Gómez Gallego,A.J. Gutiérrez Martínez,I. Jericó,S. Kapetanovic García,A. Lopez de Munain Arregui,Lluís Martorell,G. Morís de la Tassa,R. Moreno Zabaleta,José Luis Muñoz-Blanco,J. Olivar Roldán,S.I. Pascual Pascual,R. Peinado Peinado,H. Pérez,J.J. Poza Aldea,M. Rabasa,A. Ramos,A. Rosado Bartolomé,M.Á. Rubio Pérez,Jon Andoni Urtizberea,Gustavo Zapata-Wainberg,Eduardo Gutiérrez-Rivas +33 more
TL;DR: Steinert's disease or myotonic dystrophy type 1 is a multisystemic disease that requires specialised multidisciplinary follow-up that implies that it has to be addressed by different specialities with experience in the disease.
Journal ArticleDOI
Genotype and other determinants of respiratory function in myotonic dystrophy type 1
Ghilas Boussaïd,Ghilas Boussaïd,Karim Wahbi,Pascal Laforêt,Bruno Eymard,Tanya Stojkovic,Anthony Behin,Annane Djillali,David Orlikowski,Hélène Prigent,Frédéric Lofaso +10 more
TL;DR: Earlier and closer monitoring with routine peak cough flow determination in adults with congenital DM1, combined with weight control, may diminish the risk of respiratory complications and optimise other aspects of management.
Journal ArticleDOI
Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study
Ghilas Boussaïd,Hélène Prigent,Pascal Laforêt,Jean-Claude Raphaël,Djillali Annane,David Orlikowski,Frédéric Lofaso +6 more
TL;DR: Failure to use home ventilation as prescribed may be associated with increased mortality in patients with myotonic dystrophy type 1 and specific recommendations are available.
References
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Journal ArticleDOI
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
J. David Brook,Mila E. McCurrach,H G Harley,Alan Buckler,Deanna M. Church,Hiroyuki Aburatani,Kent W. Hunter,Vincent P. Stanton,Jean Paul Thirion,Thomas J. Hudson,Robert L. Sohn,Boris V. Zemelman,Russell G. Snell,S A Rundle,Steve Crow,June Davies,Peggy Shelbourne,Jessica L. Buxton,Clare Jones,Vesa Juvonen,Keith J. Johnson,Peter S. Harper,D.J. Shaw,David E. Housman +23 more
TL;DR: Using positional cloning strategies, this work has identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients and PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies.
Journal ArticleDOI
Population frequencies of inherited neuromuscular diseases—A world survey
TL;DR: A survey of the world literature of the population frequencies of various inherited neuromuscular diseases has been carried out, with a conservative estimate of the overall prevalence among both sexes around 286 x 10(-6).
Journal ArticleDOI
Predictors of aspiration pneumonia: how important is dysphagia?
Susan E. Langmore,Margaret S. Terpenning,Anthony Schork,Yin-miao Chen,Joseph Murray,Dennis E. Lopatin,Walter J. Loesche +6 more
TL;DR: Dysphagia was concluded to be an important risk for aspiration pneumonia, but generally not sufficient to cause pneumonia unless other risk factors are present as well, and a dependency upon others for feeding emerged as the dominant risk factor.
Journal ArticleDOI
Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1
William J. Groh,Miriam R. Groh,Chandan Saha,John C. Kincaid,Zachary Simmons,Emma Ciafaloni,Rahman Pourmand,Richard F. Otten,Deepak Bhakta,Girish V. Nair,Mohammad M. Marashdeh,Douglas P. Zipes,Robert M. Pascuzzi +12 more
TL;DR: Patients with adult myotonic dystrophy type 1 are at high risk for arrhythmias and sudden death, and a severe abnormality on the ECG and a diagnosis of an atrial tachyarrhythmia predict sudden death.
Journal ArticleDOI
A 10-year study of mortality in a cohort of patients with myotonic dystrophy
TL;DR: Life expectancy is greatly reduced in DM patients, particularly in those with early onset of the disease and proximal muscular involvement, and the high mortality reflects an increase in death rates from respiratory diseases, cardiovascular diseases, neoplasms, and sudden deaths presumably from cardiac arrhythmias.