Towards an integrative approach to the management of myotonic dystrophy type 1

Gagnon, Cynthia; Noreau, Luc; Moxley, Richard T.; Laberge, Luc; Jean, Stéphane; Richer, Louis; Perron, Michel; Veillette, Suzanne; Mathieu, Jean
August 2007
Journal of Neurology, Neurosurgery & Psychiatry;Aug2007, Vol. 78 Issue 8, p800
Academic Journal
Myotonic dystrophy type 1 (DM1) is the most common type of muscular dystrophy in adults. Approximately 60% of individuals report either having difficulty performing or being unable to carry out some activities related to home management, mobility and transportation, work and leisure. Employment, educational level and income are, on average, lower than in the general population. The complexity and variability of disease manifestations in DM1 undoubtedly pose a challenge as regards anticipating all potential problems and developing a plan for health and community management. This article presents a conceptual model for DM1 management as well as a brief discussion of an approach for developing interdisciplinary health and community services.


Related Articles

  • A comprehensive rehabilitation programme tailored to the needs of adults with muscular dystrophy. Ahlström, G.; Lindvall, B.; Wenneberg, S.; Gunnarsson, L. G. // Clinical Rehabilitation;Feb2006, Vol. 20 Issue 2, p132 

    Objective: To assess if activities of daily living (ADL), coping and quality of life could be improved in adults with muscular dystrophy through a comprehensive rehabilitation programme. Design: Quasi-experimental, controlled clinical study comparing patients with similar age and disease...

  • Autonomic regulation in muscular dystrophy. Angelini, Corrado; Di Leo, Rita; Cudia, Paola // Frontiers in Physiology;Sep2013, Vol. 4, p1 

    The article discusses the assessment of autonomic nervous system (ANS) function in muscular dystrophies. Topics discussed include the relationship between ANS and cardiac mortality, types of muscular dystrophies such as Duchenne (DMD) and Becker (BMD) muscular dystrophies, myotonic dystrophy,...

  • A Child With Facial and Proximal Limb Weakness. Mitra, Sudeshna; Prayson, Richard A.; Friedman, Neil R. // Archives of Pathology & Laboratory Medicine;Jun2003, Vol. 127 Issue 6, p755 

    Examines the medical condition of a girl who presented with a slowly progressive drooping of the left side of her mouth of 9 months' duration. Description of the muscle biopsy; Typical manifestation of facioscapulohumeral dystrophy (FSHD); Underlying defect of FSHD.

  • Diagnostic odyssey of patients with myotonic dystrophy. Hilbert, James; Ashizawa, Tetsuo; Day, John; Luebbe, Elizabeth; Martens, William; McDermott, Michael; Tawil, Rabi; Thornton, Charles; Moxley, Richard // Journal of Neurology;Oct2013, Vol. 260 Issue 10, p2497 

    The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM)...

  • Ophthalmological Findings of Turkish Children With Muscular Dystrophies. Ozer, Pinar Altiaylik; Kabatas, Emrah Utku; Ertugrul, Gokce Tasdemir; Kurtul, Bengi Ece; Aksoy, Ayse; Yuksel, Deniz; Ozkan, Mehpare // Journal of Pediatric Ophthalmology & Strabismus;2015, Vol. 52 Issue 5, p311 

    Purpose: To present the results of ophthalmological examinations in children with muscular dystrophies and highlight the importance of their ophthalmological evaluation. Methods: Retrospective analysis of the ophthalmological examination records in 74 children with a type of muscular dystrophy,...

  • Severe Respiratory and Skeletal Muscles Involvement in a Carrier of Dysferlinopathy With Chronic Obstructive Pulmonary Disease. Fuschillo, Salvatore; Torrente, Yvan; Balzano, Giovanni // Respiratory Care;Aug2010, Vol. 55 Issue 8, p1091 

    The natural course of progressive neuromuscular diseases can be complicated by respiratory muscle involvement. In muscular dystrophies such as Duchenne muscular dystrophy and myotonic dystrophy, respiratory muscle involvement is common. In others such as Becker, limb-girdle, and...

  • Neuromuscular imaging in inherited muscle diseases. Wattjes, Mike P.; Kley, Rudolf A.; Fischer, Dirk // European Radiology;Oct2010, Vol. 20 Issue 10, p2447 

    Driven by increasing numbers of newly identified genetic defects and new insights into the field of inherited muscle diseases, neuromuscular imaging in general and magnetic resonance imaging (MRI) in particular are increasingly being used to characterise the severity and pattern of muscle...

  • Myotonic dystrophy type 2 is rare in the Japanese population. Matsuura, Tohru; Minami, Narihiro; Arahata, Hajime; Ohno, Kinji; Abe, Koji; Hayashi, Yukiko K; Nishino, Ichizo // Journal of Human Genetics;Mar2012, Vol. 57 Issue 3, p219 

    No abstract available.

  • Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2. Nakayama, Takahiro; Nakamura, Harumasa; Oya, Yasushi; Kimura, Takashi; Imahuku, Ichiro; Ohno, Kinji; Nishino, Ichizo; Abe, Koji; Matsuura, Tohru // Journal of Human Genetics;Mar2014, Vol. 59 Issue 3, p129 

    Myotonic dystrophy type 2 (DM2) is more common than DM1 in Europe and is considered a rare cause of myotonic dystrophies in Asia. Its clinical course is also milder with more phenotypic variability than DM1. We herein describe the first known Asian family (three affected siblings) with DM2 based...


Read the Article


Sign out of this library

Other Topics