The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy

Abstract

Socioeconomic deprivation has long been recognized as a prominent feature of myotonic dystrophy type 1 (DM1), but studies performed before the discovery of the mutation causing DM1 may have suffered an ascertainment bias towards the more severe forms of the disease. We have sought to clarify the relationship between CTG repeats, muscular impairment, and socioeconomic characteristics of 200 patients with DM1. Patients with DM1 reported lower educational attainment, lower employment rate, lower family income, and higher reliance on social assistance than the reference population. Logistic regression showed, on one hand, that CTG repeats and marital status were significant predictors of social assistance recipiency and, on the other hand, that CTG repeats and gender were significant predictors of low social support from family, after adjustment for age, gender, degree of muscular impairment, CTG repeats, educational level, and marital status. For example, each additional 100 CTG repeats was found to increase the odds of relying on social assistance by about 35% and having low social support by about 22%. The chances of experiencing socioeconomic deprivation are loaded heavily against patients with DM1. The relationship between increased CTG repeat length and higher risk of material and social deprivation must be acknowledged in the clinical management of DM1.

Usefulness of clinical and electrocardiographic data for predicting adverse cardiac events in patients with myotonic dystrophy

“…Second, we cannot assume that our population represents a distinct clinical entity. The age at onset, the muscular involvement, the clinical phenotypes, the distribution of CTG expansions, the genotype-phenotype correlations, the age at death and the causes of death observed in the DM1 population of the SLSJ region (10,(26)(27)(28)(29)(30)(31)(32)(33) are similar to other published cohorts of DM1 patients, suggesting a comparable disease severity spectrum.…”

Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)

“…Although this finding supports the often debated theory that DM1 disease severity is related to a patient's CTG repeat length, there are probably many additional genetic and environmental factors that contribute to DM1 disease severity. [27][28][29] A notable observation was that the effect of the disease (as measured by the average composite impact score over all themes) did not universally in-crease with age despite increases in the prevalence of themes. This phenomenon may be due to additional unmeasured factors (e.g., experience, coping, improved social networks, or improved financial status) that help lessen the burden of disease as age increases.…”

Exploration du sentiment de compétence et d'autonomie professionnelle des infirmières cliniciennes avant et après l'implantation d'un outil de gestion intégrée de la santé chez les personnes atteintes de dystrophie myotonique de type I /

“…Les caractéristiques et les conditions décrites précédemment ont un impact sur plusieurs aspects psychosociaux de la vie des personnes atteintes de DM1 (Natterlund & Ahlstrom, 1999Natterlund, Gunnarsson, & Ahlstrom, 2000) incluant: une espérance de vie réduite (Mathieu, Allard, Potvin, Prévost, & Bégin, 1999), une participation sociale compromise (Gagnon, Mathieu, & Noreau, 2007), un environnement caractérisé par la pauvreté , l'exclusion sociale (Laberge, Veillette, Mathieu, Auclair, & Perron, 2007), une politique de prise en charge de la maladie sous-développée ainsi qu'un réseau familial qui se détériore progressivement (Chouinard, Gagnon, Lavoie, Bouchard, & Mathieu, 2009;Laberge, Veillette, Mathieu, Auclair, & Perron, 2007;). …”

“…Les personnes atteintes ont un niveau d'emploi, un niveau éducationnel (Fowler et al, 1997;Laberge, Veillette, Mathieu, Auclair, & Perron, 2007;Sistiaga et al, 2010) et un revenu, en moyenne, inférieur à ceux de la population en général (Delaporte, 1998;Portwood, Wicks, Lieberman, & Fowler, 1984). Tous ces aspects peuvent entraîner, chez cette clientèle, des difficultés à accéder aux services de santé, aux services sociaux ainsi qu'aux services communautaires (Chouinard, Gagnon, Laberge, Jean, & Mathieu, 2007) et rendent difficile l'obtention de la collaboration des personnes atteintes de DM1 (Brumback & Wilson, 1984).…”

“…(Emery, 1991;Harper, 2001 (Mathieu, Allard, Potvin, Prévost, & Bégin, 1999). Cette maladie a un impact sur plusieurs aspects psychosociaux de la vie des personnes atteintes (Natterlund & Ahlstrom, 1999Natterlund, Gunnarsson, & Ahlstrom, 2000) incluant : une participation sociale compromise (Gagnon, Mathieu, & Noreau, 2007), un environnement caractérisé par la pauvreté , l'exclusion sociale (Laberge, Veillette, Mathieu, Auclair, & Perron, 2007) ainsi qu'un réseau familial qui se détériore progressivement (Donze, Delattre, Viet, & Thevenon, 1999). Cette prise en charge nécessite des connaissances très particulières tant sur la progression à long terme de la maladie que sur les besoins particuliers concernant la santé, l'éducation, le travail, l'autogestion de la maladie, la planification familiale et les activités sociales et de loisirs ).…”