Abstract
ABSTRACTAlthough it is predominantly a muscular disease, impairments in the central nervous system in patients with facioscapulohumeral muscular dystrophy (FSHD) have been described in the literature.Objective:To describe the cognitive profile of patients with FSHD and to correlate the impairments found with clinical variables and quality of life.Methods:Cross-sectional and case–control study that evaluated FSHD patients using a series of cognitive assessments (Mini-Mental State Examination — MMSE, Montreal Cognitive Assessment — MoCA, verbal fluency with phonological restriction — FAS, categorical verbal fluency — FAS-cat, trail-making test — TMT, and Rey’s Verbal Auditory Learning Test); a neurological severity scale (Gardner–Medwin–Walton — GMWS); and a quality of life measurement tool (Medical Outcomes Study 36-Item Short-Form Health Survey).Results:Individuals with FSHD (13) and healthy controls (26) were paired by gender and age. Significant differences between case and control groups were found in MMSE, TMT A, and A7 (p≤0.05) and MOCA (p≤0.001) performances. A positive correlation was verified in long-term memory impairments and the age in which symptoms appear (r=-0.593, p=0.033). Regarding quality of life assessment, the emotional domain correlated to MEEM (r=0.657, p=0.015), TMT A (r=-0.601, p=0.030), and A7 (r=0.617, p=0.025) performances.Conclusions:Individuals with FSHD presented mild impairments in the performance of tasks that involve attention, planning, and long-term memory functions. Those impairments were associated neither with the disease duration nor with its neurological severity.
Highlights
The present exploratory article describes a small sample of individuals with Facioscapulohumeral muscular dystrophy (FSHD), whose decreased attention, planning, and memory tasks were not associated with the time or neurological severity of the disease
Two screening tests were used in order to ensure that a sensible instrument would be applied (MMSE and Montreal Cognitive Assessment (MoCA))
The MoCA test seemed to be likely more sensible as a cognitive screening tool to be used in individuals with FSHD
Summary
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disease, which is caused, most of times, by a contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4 (4q35), which has a dominant autosomal heritage pattern.[1,2,3] Its worldwide incidence revolves around 1/30,000 and the birth incidence is approximately 1/15,000, making FSHD as one of the most prevalent muscular dystrophy among adults.[4,5] FSHD is predominantly characterized by progressive weakness and atrophy in facial muscles, in muscles that support the scapula, and in those muscles that cover the humerus; it affects other body areas.[6,7,8] It is generally a muscular disease, impairments in the central nervous system (CNS) in individuals with FSHD have been described in the literature. Memory, spatial perception, and concept formation have been reported in the literature.[11,12] there is no standardized, objective, and detailed characterization of the cognition aspects and their relationship with FSHD; in addition, these data are unknown concerning the Brazilian population
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
