Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
Open Access
- 4 April 2016
- journal article
- research article
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 11 (1), 1-11
- https://doi.org/10.1186/s13023-016-0417-z
Abstract
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. 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. 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 p < 0.01) to the performance failure in cognitive tests, specifically in the domains of visuo-spatial memory, cognitive flexibility and conceptualization. The obtained data confirm, by a systematic analysis, what’s the common clinical perceiving of disease unawareness in Steinert’s disease, this related to the already known cognitive-behavioural impairment of frontal type in affected patients. We believe that a deep knowledge of this aspect will be useful for medical practice in the management of patients with DM1, also for guidance in occupational and social interventions, definition of outcome measures and in preparation of trial readiness.Keywords
Funding Information
- AFM-Téléthon (FR) (16216)
This publication has 40 references indexed in Scilit:
- Measuring quality of life impairment in skeletal muscle channelopathiesEuropean Journal of Neurology, 2012
- The neural basis of metacognitive abilityPhilosophical Transactions B, 2012
- Theory of mind impairment in adult-onset myotonic dystrophy type 1Neuroscience Research, 2012
- The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter diseaseBrain, 2011
- Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2Neurology, 2010
- Neuropathology does not Correlate with Regional Differences in the Extent of Expansion of CTG Repeats in the Brain with Myotonic Dystrophy Type 1ACTA HISTOCHEMICA ET CYTOCHEMICA, 2010
- Depression in Myotonic Dystrophy type 1: clinical and neuronal correlatesBehavioral and Brain Functions, 2010
- Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood formsDevelopmental Medicine and Child Neurology, 2009
- Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1Psychological Medicine, 2009
- Cerebral involvement in myotonic dystrophiesMuscle & Nerve, 2007