Different neuropsychological and brain volumetric profiles in a pair of identical twins with myotonic dystrophy type 1 indicate a non-genetic modulation of clinical phenotype

Myotonic Dystrophy type 1 (DM1) is an autosomal dominant [1] genetic disorder caused by a CTG triplet repeat expansion within the DM1 protein kinase gene (DMPK) located on chromosome 19q13.3 [2]. DM1 is a heterogeneous multisystemic syndrome characterised by congenital, childhood-juvenile or adult clinical onset [1]. Psychopathological/psychiatric [3-4] and cognitive symptoms including social cognition disorders [5-6] have been previously described. Social cognition is a complex of cognitive and affective functions that entail the recognition of believes and intentions of others (theory of mind), emotional processing, and empathy.
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research