How to capture activities of daily living in myotonic dystrophy type 2?


Myotonic dystrophies type 1 (DM1) and 2 (DM2) are autosomal dominant, multi-systemic diseases, caused by CTG- or CCTG-repeat expansion mutations in DMPK and CNBP, respectively [1,2]. The clinical spectrum is extremely heterogeneous, encompassing muscular and extra-muscular manifestations. Despite some clinical similarities, DM1 and DM2 are distinct disease entities. In particular, the main disease-defining features of DM2, in comparison to DM1, are: the world-wide lower frequency, the usually later disease onset, the more proximal and axial muscular involvement, the higher prevalence of myalgia, the less prominent myotonia and an overall better prognosis with less frequent respiratory insufficiency and cognitive impairment [3,4].


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