Browsing by Author "Vujnic, Milorad (56079611800)"

Introduction: To date, there are only several reports on body composition in myotonic dystrophy type 1 (DM1) and there are no data for myotonic dystrophy type 2 (DM2). The aim was to analyze body composition of patients with DM1 and DM2, and its association with socio-demographic and clinical features of the diseases. Methods: There were no statistical differences in sociodemographic features between 20 DM1 patients and 12 DM2 patients. Body composition was assessed by DEXA (dual-energy x-ray absorptiometry). A three-compartment model was used: bone mineral content (BMC), fat mass (FM), and lean tissue mass (LTM). Results: Patients with DM1 and DM2 had similar total body mass (TBM), BMC, FM, and LTM. Patients with DM1 had higher trunk-limb fat index (TLFI) in comparison to DM2 patients which indicates visceral fat deposition in DM1 (1.16 ± 0.32 for DM1 vs. 0.87 ± 0.23 for DM2, p < 0.05). Right ribs bone mineral density was lower in DM2 group (0.68 ± 0.07 g/cm 2 vs. 0.61 ± 0.09 g/cm 2 , p < 0.05). Higher percentage of FM in legs showed correlation with lower strength of the upper leg muscles in DM1 (ρ = − 0.47, p < 0.05). Higher muscle strength in DM2 patients was in correlation with higher bone mineral density (ρ = + 0.62, p < 0.05 for upper arm muscles, ρ = + 0.87, p < 0.01 for lower arm muscles, ρ = + 0.72, p < 0.05 for lower leg muscles). Conclusion: DM1 patients had visceral obesity, and percentage of FM correlated with a degree of muscle weakness in upper legs. In DM2 patients, degree of muscle weakness was in correlation with higher FM index and lower bone mineral density. © 2019, Fondazione Società Italiana di Neurologia.

Objectives: metabolic syndrome (MetS) increases risk of cardiovascular diseases and diabetes mellitus type 2. Aim of this study was to investigate frequency and features of MetS in a large cohort of patients with DM2. Materials & methods: this cross-sectional study included 47 DM2 patients. Patients were matched with 94 healthy controls (HCs) for gender and age. MetS was diagnosed according to the new worldwide consensus criteria from 2009. Results: mean age of DM2 patients was 52 ± 11 years, 15 (32%) were males, and mean disease duration was 15 ± 14 years. MetS was present in 53% of DM2 patients and 46% of HCs (p > 0.05). All components of the MetS appeared with the similar frequency in DM2 and HCs, respectively: hypertension 64 vs 52%, central obesity 62 vs 74%, hypertriglyceridemia 49 vs 39%, hyperglycemia 42 vs 33% and low HDL cholesterol 30 vs 42% (p > 0.05). DM2 patients were more commonly on lipid lowering therapy compared to HCs (12 vs 3%, p = 0.05). Fifteen (32%) patients with DM2 and only one (1%) subject from control group had diabetes mellitus (p < 0.01). Insulin resistance was found in thirty (65%) patients with DM2. Presence of MetS was not associated with patient’s gender, age, severity nor duration of the disease (p > 0.05). Conclusions: more than half of DM2 subjects met the criteria for the MetS. We suppose that treatment of metabolic disturbances may reduce cardiovascular complications and improve quality of life in patients with DM2, which is progressive and still incurable disorder. © Gaetano Conte Academy.

Introduction: The aim of this study was to assess the frequency and features of metabolic syndrome (MetS) in myotonic dystrophy type 1 (DM1). Methods: We studied 66 DM1 patients (50% men, aged 41.9±10.5 years, disease duration of 19.3±8.6 years). New worldwide consensus criteria for MetS from 2009 were used. Results: Components of MetS were present at the following frequencies: hypertriglyceridemia 67%; low HDL cholesterol 35%; hypertension 18%; central obesity 14%; and hyperglycemia 9%. MetS was present in 11 (17%) patients. The presence of MetS was not associated with patients' gender, age, disease severity, disease duration, or CTG repeat length (P>0.05). Patients with MetS had significantly lower total SF-36 scores as a measure of quality of life in comparison to patients without MetS (P<0.05). Conclusion: Although certain components of MetS were very frequent in patients with DM1, only 17% met the criteria for MetS. © 2014 Wiley Periodicals, Inc.

Introduction: The aim of this study was to assess the frequency and features of metabolic syndrome (MetS) in myotonic dystrophy type 1 (DM1). Methods: We studied 66 DM1 patients (50% men, aged 41.9±10.5 years, disease duration of 19.3±8.6 years). New worldwide consensus criteria for MetS from 2009 were used. Results: Components of MetS were present at the following frequencies: hypertriglyceridemia 67%; low HDL cholesterol 35%; hypertension 18%; central obesity 14%; and hyperglycemia 9%. MetS was present in 11 (17%) patients. The presence of MetS was not associated with patients' gender, age, disease severity, disease duration, or CTG repeat length (P>0.05). Patients with MetS had significantly lower total SF-36 scores as a measure of quality of life in comparison to patients without MetS (P<0.05). Conclusion: Although certain components of MetS were very frequent in patients with DM1, only 17% met the criteria for MetS. © 2014 Wiley Periodicals, Inc.

Myotonic dystrophy type 2 (DM2) is a multisystem disorder that affects many organs and systems, including the brain. The objective is to analyze personality patterns in myotonic dystrophy type 2 (DM2) compared to DM1 control group. The study comprised 27 consecutive genetically confirmed DM2 patients and control group of 44 DM1 patients. Personality traits were assessed with the Millon Multiaxial Clinical Inventory III (MMCI III). In DM2 group there were no scale with pathological scores, although compulsive and paranoid traits were the most prominent. DM2 patients had lower scores compared to DM1 patients in almost all scales. Pathological scores on clinical symptom scales were not observed, although anxiety scale almost approached this value. Patients with higher compulsive score had higher level of education (rho = +0.53, p < 0.01). On the other hand, higher paranoid score correlated with younger age at onset (rho = -0.34, p < 0.01) and lower educational level (rho = -0.26, p < 0.05). Our results did not show significant personality impairments in patients with DM2. However, following personality traits were predominant: compulsive (in patients with higher education) and paranoid (in patients with lower education and earlier age at onset). The most common clinical symptoms were anxiety and somatization.

Aim To analyze quality of life (QoL) in a large cohort of myotonic dystrophy type 2 (DM2) patients in comparison to DM1 control group using both generic and disease specific questionnaires. In addition, we intended to identify different factors that might affect QoL of DM2 subjects. Patients and method 49 DM2 patients were compared with 42 adult-onset DM1 patients. Patients completed SF-36 questionnaire and individualized neuromuscular quality of life questionnaire (INQoL). Following measures were also included: Medical Research Council 0-5 point scale for muscle strength, Addenbrooke's cognitive examination revised for cognitive status, Hamilton rating scale for depression, Krupp's fatigue severity scale and daytime sleepiness scale (DSS) Results SF-36 total score and physical composite score did not differ between DM1 and DM2 patients (p > 0.05). However, role emotional and mental composite score were better in DM2 (p < 0.05). INQoL total score was similar in both groups (p > 0.05), although DM2 patients showed less impairment in independence (p < 0.05) and body image domains (p < 0.01). Regarding symptoms assessed by INQoL, DM2 patients showed less severe complaint of myotonia (p < 0.01). Multiple linear regression analysis showed that significant predictors of worse QoL in DM2 patients were older age, worse muscle strength and higher level of fatigue. Conclusion QoL reports of DM2 patients with the most severe form of the disease are comparable to those of DM1 patients. Special attention of clinicians should be paid to DM2 patients with older age, more severe muscle weakness and higher level of fatigue since they may be at higher risk to have worse QoL. © 2016 Elsevier B.V.

Aim To analyze quality of life (QoL) in a large cohort of myotonic dystrophy type 2 (DM2) patients in comparison to DM1 control group using both generic and disease specific questionnaires. In addition, we intended to identify different factors that might affect QoL of DM2 subjects. Patients and method 49 DM2 patients were compared with 42 adult-onset DM1 patients. Patients completed SF-36 questionnaire and individualized neuromuscular quality of life questionnaire (INQoL). Following measures were also included: Medical Research Council 0-5 point scale for muscle strength, Addenbrooke's cognitive examination revised for cognitive status, Hamilton rating scale for depression, Krupp's fatigue severity scale and daytime sleepiness scale (DSS) Results SF-36 total score and physical composite score did not differ between DM1 and DM2 patients (p > 0.05). However, role emotional and mental composite score were better in DM2 (p < 0.05). INQoL total score was similar in both groups (p > 0.05), although DM2 patients showed less impairment in independence (p < 0.05) and body image domains (p < 0.01). Regarding symptoms assessed by INQoL, DM2 patients showed less severe complaint of myotonia (p < 0.01). Multiple linear regression analysis showed that significant predictors of worse QoL in DM2 patients were older age, worse muscle strength and higher level of fatigue. Conclusion QoL reports of DM2 patients with the most severe form of the disease are comparable to those of DM1 patients. Special attention of clinicians should be paid to DM2 patients with older age, more severe muscle weakness and higher level of fatigue since they may be at higher risk to have worse QoL. © 2016 Elsevier B.V.

Background and Purpose: This study was undertaken to examine vestibulo-ocular reflex (VOR) characteristics in myotonic dystrophy type 1 (DM1) and type 2 (DM2) using video head impulse testing (vHIT). Methods: VOR gain, refixation saccade prevalence, first saccade amplitude, onset latency, peak velocity, and duration were compared in DM1, DM2, age-matched normal controls, and patients with peripheral and central vestibulopathies. Results: Fifty percent of DM1 and 37.5% of DM2 patients demonstrated reduced VOR gain. Refixation saccade prevalence for horizontal canal (HC) and posterior canal (PC) was significantly higher in DM1 (101 ± 42%, 82 ± 47%) and DM2 (70 ± 45%, 61 ± 38%) compared to controls (40 ± 28% and 43 ± 33%, p < 0.05). The first saccade amplitudes and peak velocities were higher in HC and PC planes in DM1 and DM2 compared to controls (p < 0.05). HC slow phase eye velocity profiles in DM1 showed delayed peaks. The asymmetry ratio, which represents the percentage difference between the first and second halves of the slow phase eye velocity response, was therefore negative (−22.5 ± 17%, −2.3 ± 16%, and − 4.7 ± 8% in DM1, DM2, and controls). HC VOR gains were lower and gain asymmetry ratio was larger and negative in patients with DM1 with moderate to severe ptosis and a history of imbalance and falls compared to the remaining DM1 patients (p < 0.05). In peripheral vestibulopathies, saccade amplitude was larger, peak velocity was higher, and onset latency was shorter (p < 0.05) than in DM1. In central vestibulopathy (posterior circulation strokes), saccade peak velocity was higher, but amplitude and onset latency were not significantly different from DM1. Conclusions: VOR impairment is common in DM1 and DM2. In DM1, refixation saccade characteristics are closer to central than peripheral vestibulopathies. Delayed peaks in the vHIT eye velocity profile observed in patients with DM1 may reflect extraocular muscle weakness. VOR impairment and VOR asymmetry in DM1 are associated with imbalance and falls. © 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.

Background and Purpose: This study was undertaken to examine vestibulo-ocular reflex (VOR) characteristics in myotonic dystrophy type 1 (DM1) and type 2 (DM2) using video head impulse testing (vHIT). Methods: VOR gain, refixation saccade prevalence, first saccade amplitude, onset latency, peak velocity, and duration were compared in DM1, DM2, age-matched normal controls, and patients with peripheral and central vestibulopathies. Results: Fifty percent of DM1 and 37.5% of DM2 patients demonstrated reduced VOR gain. Refixation saccade prevalence for horizontal canal (HC) and posterior canal (PC) was significantly higher in DM1 (101 ± 42%, 82 ± 47%) and DM2 (70 ± 45%, 61 ± 38%) compared to controls (40 ± 28% and 43 ± 33%, p < 0.05). The first saccade amplitudes and peak velocities were higher in HC and PC planes in DM1 and DM2 compared to controls (p < 0.05). HC slow phase eye velocity profiles in DM1 showed delayed peaks. The asymmetry ratio, which represents the percentage difference between the first and second halves of the slow phase eye velocity response, was therefore negative (−22.5 ± 17%, −2.3 ± 16%, and − 4.7 ± 8% in DM1, DM2, and controls). HC VOR gains were lower and gain asymmetry ratio was larger and negative in patients with DM1 with moderate to severe ptosis and a history of imbalance and falls compared to the remaining DM1 patients (p < 0.05). In peripheral vestibulopathies, saccade amplitude was larger, peak velocity was higher, and onset latency was shorter (p < 0.05) than in DM1. In central vestibulopathy (posterior circulation strokes), saccade peak velocity was higher, but amplitude and onset latency were not significantly different from DM1. Conclusions: VOR impairment is common in DM1 and DM2. In DM1, refixation saccade characteristics are closer to central than peripheral vestibulopathies. Delayed peaks in the vHIT eye velocity profile observed in patients with DM1 may reflect extraocular muscle weakness. VOR impairment and VOR asymmetry in DM1 are associated with imbalance and falls. © 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.

Objective: Vestibular impairment may be present in and contribute to imbalance in patients with hereditary neuropathies. We examined the vestibulo-ocular reflex (VOR) characteristics in peripheral myelin protein 22 neuropathies using the video head-impulse test (vHIT). Methods: 23 patients with Charcot-Marie-Tooth disease 1A (CMT1A) and 17 with hereditary neuropathy with liability to pressure palsies (HNPP) were recruited. Three-dimensional vHIT was performed. VOR-gain and latency, refixation-saccade prevalence and first-saccade amplitude, onset-latency, peak-velocity and duration were examined and compared against age-matched controls. Results: In CMT1A and HNPP gait imbalance was reported in 78.3 % and 58.8 % of patients, resulting in recurrent falls in 65.2 % and 23.5 %. Reduced VOR-gain affecting the posterior-canals (PCs) was found in 47.8 % of CMT1A and 11.7 % of HNPP patients. First saccade amplitude and peak-velocities higher in horizontal-canal (HC) and PC in the CMT1A group compared to controls (p < 0.05). In HNPP, first saccades were larger in HC and anterior-canal (AC) planes; saccade peak-velocity was higher in AC and PC planes compared to controls (p < 0.05). In CMT1A, VOR-gain impairment was associated with higher Charcot-Marie-Tooth Examination Score, longer disease duration, and higher total Overall Neuropathy Limitation Scale score (p < 0.05) and VOR-gain was lower for PC in patients with a history of recurrent falls (p < 0.05). VOR-latency was significantly longer in HC and PCs in CMT1A compared to controls (p < 0.05). Conclusions: VOR impairment and slowing of the VOR-latency is found in CMT1A but not the HNPP cohort. These findings may relate to demyelinating processes affecting the vestibular nerves and thus the VOR pathways. Significance: VHIT allows detection of VOR impairment which could be an additional contributor to imbalance and falls in patients with CMT1A. © 2025

Objective: Vestibular impairment may be present in and contribute to imbalance in patients with hereditary neuropathies. We examined the vestibulo-ocular reflex (VOR) characteristics in peripheral myelin protein 22 neuropathies using the video head-impulse test (vHIT). Methods: 23 patients with Charcot-Marie-Tooth disease 1A (CMT1A) and 17 with hereditary neuropathy with liability to pressure palsies (HNPP) were recruited. Three-dimensional vHIT was performed. VOR-gain and latency, refixation-saccade prevalence and first-saccade amplitude, onset-latency, peak-velocity and duration were examined and compared against age-matched controls. Results: In CMT1A and HNPP gait imbalance was reported in 78.3 % and 58.8 % of patients, resulting in recurrent falls in 65.2 % and 23.5 %. Reduced VOR-gain affecting the posterior-canals (PCs) was found in 47.8 % of CMT1A and 11.7 % of HNPP patients. First saccade amplitude and peak-velocities higher in horizontal-canal (HC) and PC in the CMT1A group compared to controls (p < 0.05). In HNPP, first saccades were larger in HC and anterior-canal (AC) planes; saccade peak-velocity was higher in AC and PC planes compared to controls (p < 0.05). In CMT1A, VOR-gain impairment was associated with higher Charcot-Marie-Tooth Examination Score, longer disease duration, and higher total Overall Neuropathy Limitation Scale score (p < 0.05) and VOR-gain was lower for PC in patients with a history of recurrent falls (p < 0.05). VOR-latency was significantly longer in HC and PCs in CMT1A compared to controls (p < 0.05). Conclusions: VOR impairment and slowing of the VOR-latency is found in CMT1A but not the HNPP cohort. These findings may relate to demyelinating processes affecting the vestibular nerves and thus the VOR pathways. Significance: VHIT allows detection of VOR impairment which could be an additional contributor to imbalance and falls in patients with CMT1A. © 2025