Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
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RESEARCH
Open Access
Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study Sigrid Baldanzi1, Francesca Bevilacqua2, Rita Lorio2, Leda Volpi1, Costanza Simoncini1, Antonio Petrucci3, Mirco Cosottini4, Gabriele Massimetti5, Gloria Tognoni1, Giulia Ricci1, Corrado Angelini2 and Gabriele Siciliano1*
Abstract Background: Myotonic dystrophy type 1 (Steinert’s disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gastrointestinal tract, endocrine system, and central nervous system, finally responsible of increasing disabilities and secondary social consequences. To date, DM1-related brain involvement represents a challenging field of research. It is well known that DM1 patients frequently present neuropsychological disturbances and psychiatric comorbidities among which reduced awareness of disease burden and its progression, also defined as anosognosia, is common in clinical practice, this leading to secondary misattribution of symptoms, delay in timely diagnostic procedures and low compliance to treatment. Methods: Here we present an observational cross sectional study in which disease-related cognitive dysfunctions and quality of life were assessed by a protocol finally designed to estimate the prevalence of disease awareness in a sample of 65 adult-onset DM1 patients. Results: Our analysis showed that in DM1 patients several cognitive functions, including executive and mnesic domains with visuo-spatial involvement, were affected. The assessment of anosognosia revealed that a high percentage (51.6 %) of DM1 subjects was disease unaware. The reduced illness awareness occurs across different physical and life domains, and it appears more prominent in Activities and Independence domains investigated by the Individualized Neuromuscular Quality Of Life (INQoL) questionnaire. Moreover, the unawareness resulted significantly related (at p
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