期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 12, 页码 847-851出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.08.006
关键词
Muscle disease; All neuromuscular disorders; Medical care; All rehabilitation; Trinucleotide repeats diseases; Myotonic dystrophy; Clinical guidelines; Health management
资金
- Institute of Health Services
- Canadian Institutes of Health Research
The complexity and variability of disease manifestations in myotonic dystrophy (DM1) pose a challenge for the clinical management of patients The follow-up of DM1 patients h is been described as fragmented inadequate or even deficient for many patients Through a systematic review of the nu ducal and social literature and a validation process with a DM1 Expert panel we summarized systems, and social concerns clinically relevant to DM1 and revisited recommendations for treatment This article summarizes common manifestations of the central nervous system visual respiratory cardiac gastrointestinal genito-urinary muscular and metabolic impairments In addition we emphasized the,octal features of DM1 such as low education attainment low employment poor familial and social environment and poor social participation While cardiac respiratory and swallowing problems affect life expectancy it is often excessive daytime sleepiness fatigue gastro-intestinal and cognitive behavioural manifestations that are the most disabling features of the disorder A more holistic approach in the management of DM1 and a purposeful integrated organization of care involving all members of the patients environment including family clinicians decision-makers and community organizations are needed to move out of the spiral of disease and handicap and move toward optimal citizenship and quality of life (C) 2010 Elsevier B V All rights reserved
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