This study explored mental rotation (MR) performance in patients with myotonic dystrophy 1 (DM1), an inherited neuromuscular disorder dominated by muscular symptoms, including muscle weakness and myotonia. The aim of the study was twofold: to gain new insights into the neurocognitive mechanisms of MR and to better clarify the cognitive profile of DM1 patients. To address these aims, we used MR tasks involving kinds of stimuli that varied for the extent to which they emphasized motor simulation and activation of body representations (body parts) versus visuospatial imagery (abstract objects). We hypothesized that, if peripheral sensorimotor feedback system plays a pivotal role in modulating MR performance, then DM1 patients would exhibit more difficulties in mentally rotating hand stimuli than abstract objects.

Twenty-four DM1 patients and twenty-four age- and education-matched control subjects were enrolled in the study and were required to perform two computerized MR tasks involving pictures of hands and abstract objects.

The analysis of accuracy showed that patients had impaired MR performance when the angular disparities between the stimuli were higher. Notably, as compared to controls, patients showed slower responses when the stimuli were hands, whereas no significant differences when stimuli were objects.

The findings are coherent with the embodied cognition view, indicating a tight relation between body- and motor-related processes and MR. They suggest that peripheral, muscular, abnormalities in DM1 lead to alterations in manipulation of motor representations, which in turn affect MR, especially when body parts are to mentally rotate.