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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.
Myotonic dystrophy type 1 (DM1, OMIM 160900) is the most common type of muscular dystrophy in adults. Its estimated prevalence ranges between 2.1 and 14.3 per 100 000 worldwide, but reaches 189 per 100 000 in the Saguenay–Lac-St-Jean region of the province of Quebec, Canada.1,2 DM1 is an autosomal dominant disease caused by an unstable trinucleotide repeat expansion of the cytosine–thymine–guanine [CTG]n located in the 3′ untranslated region of chromosome 19q13.3.3 DM1 was first described as a muscle disease with gonadal involvement in 1909. Since then, it has been recognised as a multisystemic disorder with various impairments, especially in the muscular, respiratory, cardiac, central nervous, endocrine and ocular systems.4 Typical symptoms of the disease include progressive loss of muscle strength, usually distal to proximal, ptosis, weakness of facial and anterior neck muscles, myotonia, daytime somnolence and cataracts.4 DM1 may also affect the ability of patients to carry out certain daily activities and social roles. 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.5 Employment, educational level and …
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