Abstract
Gastro-intestinal disorders in myotonic dystrophy type 1 (DM1) are poorly understood and often overlooked by the medical community. The aim of this study is to describe gastro-intestinal manifestations of DM1 patients, to assess the impact on quality of life (GIQLI scale) and to identify factors associated. Thirty-two patients were included. Fifty percent reported digestive troubles. Abdominal pain and diarrhea were the most frequently reported ones (62% and 81% respectively). We did not find any factor linked to the presence of these disorders: (i) the duration of progression of the pathology, (ii) the level of CTG expansion, (iii) the degree of handicap or even (iv) the extra-neurological (cardiac and ophthalmological) involvement. However, this study allowed us to identify food avoidance behaviors (mainly dairy products and fibers) in 69% of cases (n = 11) and self-medication in 81% of cases (n = 13). Patients quality of life is altered with an average GIQLI scale at 63 (general population: 126) leading to depression feelings (78%) and a feeling of misunderstanding of the relatives (50%). The presence of gastro-intestinal disorders is very frequent in the DM1 population, prompting us to continue this study on a larger number of patients. Pathophysiological studies would permit to better understand their origin, e.g. damage to smooth muscles or microbiota alteration?
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