Browsing by Author "Kacar, Aleksandra (6602386522)"

Making diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is challenging since it can mimic a multitude of disorders, and is misdiagnosed in at least 50% of cases. We sought to determine the frequency of CIDP misdiagnosis in clinical practice in Serbia, to uncover CIDP mimics, and to identify factors that may aid in CIDP diagnosis. Our longitudinal retrospective cohort study included 86 eligible adult patients referred to the Neurology Clinic, University Clinical Centre of Serbia, with a diagnosis of CIDP. We also included 15 patients referred to us with different diagnoses that ended up having CIDP as their final diagnosis. Exactly half of patients referred as CIDP failed to meet the established diagnostic criteria (non-CIDP) and were given an alternative diagnosis at the first hospitalization. At the 1-year follow-up, the diagnosis was further revised in four subjects. Confirmed CIDP patients usually had their initial diagnosis based on the nerve conduction studies (NCS), a typical presentation with symmetrical involvement of all four limbs, as well as higher frequencies of elevated protein levels and albuminocytologic dissociation in the cerebrospinal fluid (CSF). CIDP patients also responded better to immune therapy. We found that 52% of the patients initially referred to our Clinic as CIDP were given other diagnoses after a 1-year follow-up. Out of all CIDP cases, 27% had been unrecognized prior to referral to our Center. Utilization of clear and objective indicators - conclusive NCS, improvement on therapy, and elevated CSF proteins may provide greater certainty in diagnosing CIDP. © 2023 Peripheral Nerve Society.

Making diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is challenging since it can mimic a multitude of disorders, and is misdiagnosed in at least 50% of cases. We sought to determine the frequency of CIDP misdiagnosis in clinical practice in Serbia, to uncover CIDP mimics, and to identify factors that may aid in CIDP diagnosis. Our longitudinal retrospective cohort study included 86 eligible adult patients referred to the Neurology Clinic, University Clinical Centre of Serbia, with a diagnosis of CIDP. We also included 15 patients referred to us with different diagnoses that ended up having CIDP as their final diagnosis. Exactly half of patients referred as CIDP failed to meet the established diagnostic criteria (non-CIDP) and were given an alternative diagnosis at the first hospitalization. At the 1-year follow-up, the diagnosis was further revised in four subjects. Confirmed CIDP patients usually had their initial diagnosis based on the nerve conduction studies (NCS), a typical presentation with symmetrical involvement of all four limbs, as well as higher frequencies of elevated protein levels and albuminocytologic dissociation in the cerebrospinal fluid (CSF). CIDP patients also responded better to immune therapy. We found that 52% of the patients initially referred to our Clinic as CIDP were given other diagnoses after a 1-year follow-up. Out of all CIDP cases, 27% had been unrecognized prior to referral to our Center. Utilization of clear and objective indicators - conclusive NCS, improvement on therapy, and elevated CSF proteins may provide greater certainty in diagnosing CIDP. © 2023 Peripheral Nerve Society.

Longitudinal health-related quality of life (QoL) data in Guillain-Barré (GBS) patients are still scarce. We, therefore, investigated health- related QoL in GBS patients from Serbia and surrounding countries during a six-month follow-up period, and analyzed its association with patients' disability. Our study comprised 74 adult patients diagnosed with GBS from May 2017 until May 2018 in seven tertiary healthcare centers. Health-related QoL was investigated using the SF-36 questionnaire, and compared with functional disability assessed by the GBS disability scale (GDS). Tests were performed at day 14, day 28, month 3 and month 6 from disease onset. GDS and SF-36 scores improved over time (p < 0.01). GDS scores were different at all four time points, while SF-36 did not differ between day 14 and day 28. Pooled SF-36 scores (especially physical ones) correlated with pooled GDS scores, except for Bodily Pain and Role Emotional scores. We found that GDS score at day 14 was an independent predictor of GDS score at month 6 (β = +0.52, p < 0.01), while SF-36 score at day 14 was an independent predictor of SF-36 score at month 6 (β = +0.51, p < 0.01). Neurologists should look not only on disability but also on QoL in GBS patients, since these two measures provide us with important complementary items of information. © 2020 Elsevier Ltd

Longitudinal health-related quality of life (QoL) data in Guillain-Barré (GBS) patients are still scarce. We, therefore, investigated health- related QoL in GBS patients from Serbia and surrounding countries during a six-month follow-up period, and analyzed its association with patients' disability. Our study comprised 74 adult patients diagnosed with GBS from May 2017 until May 2018 in seven tertiary healthcare centers. Health-related QoL was investigated using the SF-36 questionnaire, and compared with functional disability assessed by the GBS disability scale (GDS). Tests were performed at day 14, day 28, month 3 and month 6 from disease onset. GDS and SF-36 scores improved over time (p < 0.01). GDS scores were different at all four time points, while SF-36 did not differ between day 14 and day 28. Pooled SF-36 scores (especially physical ones) correlated with pooled GDS scores, except for Bodily Pain and Role Emotional scores. We found that GDS score at day 14 was an independent predictor of GDS score at month 6 (β = +0.52, p < 0.01), while SF-36 score at day 14 was an independent predictor of SF-36 score at month 6 (β = +0.51, p < 0.01). Neurologists should look not only on disability but also on QoL in GBS patients, since these two measures provide us with important complementary items of information. © 2020 Elsevier Ltd

Previous studies showed that being unemployed is associated with lower quality of life in patients with Charcot-Marie-Tooth type 1A (CMT1A). The aim of this study was to assess the differences between CMT1A patients capable of working and CMT1A patients incapable of working due to CMT1A. Forty-four patients with genetically confirmed CMT1A were included. Medical Research Council (MRC) Sum Score, Charcot-Marie-Tooth Neuropathy Score (CMTNS), CMT Examination Score (CMTES), Overall Neuropathy Limitations Scale (ONLS), Beck Depression Inventory (BDI), Krupp’s Fatigue Severity Scale (FSS), and Falls Efficacy Score (FES) were used. Whole cohort was divided into two groups: 1. CMT1A patients capable of working (employed and unemployed not due to CMT) and 2. CMT1A patients incapable of working due to CMT1A (unemployed due to CMT and retired due to CMT). At time of testing, 38.6% patients were employed, 13.6% were unemployed due to CMT, 6.8% were unemployed but not due to CMT, and 40.9% were retired early due to disability caused by CMT. Patients retired due to CMT1A at the age of 43 ± 10 years. ONLS total score and physical work appeared as significant independent predictors of being incapable of working due to CMT1A. Patients incapable of working were almost four times more likely to have fatigue (OR = 3.7, 95% CI 1.0–13.1, p < 0.05) and 11 times more likely to have fear of falling (OR = 11.0, 95% CI 2.0–59.7, p < 0.01). Patients with more severe functional disability and physical type of job were most likely incapable of working due to CMT1A. Incapability of working was associated with fatigue and fear of falling. © 2021, Belgian Neurological Society.

It has been previously shown that patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are unemployed or retired have worse quality of life. The aim of this study was to assess predictors of early retirement in CIDP. One hundred five patients with CIDP were included. Following measures were used: questionnaire on employment status, Medical Research Council Sum Score, INCAT disability score, Beck Depression Inventory, and Krupp's Fatigue Severity Scale. At the moment of testing, 2% of patients were students, 15% were employed, 9% were unemployed due to CIDP, 9% were unemployed but not due to CIDP, 28% were retired early due to disability caused by CIDP, and finally 37% were in old-age pension. Mean age when patients retired due to CIDP was 50 ± 8 years. Mean time from CIDP onset to retirement was 2.7 ± 2.3 years. Older age at onset, lower education, and more severe weakness at the time of diagnosis were significant predictors of early retirement due to CIDP. Retired patients were 12 times more likely to suffer from depression, compared to employed patients (OR = 12.2, 95% CI = 1.41-100, P < 0.01), and eight times more likely to have fatigue (OR = 8.2, 95% CI = 1.89-35.82, P < 0.01). Older patients with lower education and more severe weakness at the time of diagnosis were most likely retired due to CIDP. Early retirement was associated with depression and fatigue. Therefore, maintaining employment should be an important aim in the management of CIDP patients. © 2018 Peripheral Nerve Society

It has been previously shown that patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are unemployed or retired have worse quality of life. The aim of this study was to assess predictors of early retirement in CIDP. One hundred five patients with CIDP were included. Following measures were used: questionnaire on employment status, Medical Research Council Sum Score, INCAT disability score, Beck Depression Inventory, and Krupp's Fatigue Severity Scale. At the moment of testing, 2% of patients were students, 15% were employed, 9% were unemployed due to CIDP, 9% were unemployed but not due to CIDP, 28% were retired early due to disability caused by CIDP, and finally 37% were in old-age pension. Mean age when patients retired due to CIDP was 50 ± 8 years. Mean time from CIDP onset to retirement was 2.7 ± 2.3 years. Older age at onset, lower education, and more severe weakness at the time of diagnosis were significant predictors of early retirement due to CIDP. Retired patients were 12 times more likely to suffer from depression, compared to employed patients (OR = 12.2, 95% CI = 1.41-100, P < 0.01), and eight times more likely to have fatigue (OR = 8.2, 95% CI = 1.89-35.82, P < 0.01). Older patients with lower education and more severe weakness at the time of diagnosis were most likely retired due to CIDP. Early retirement was associated with depression and fatigue. Therefore, maintaining employment should be an important aim in the management of CIDP patients. © 2018 Peripheral Nerve Society

Until now, longitudinally extensive transverse myelitis (LETM) was reported in association with various viral infections. We describe the case in which a diagnosis of LETM was established as a clinical manifestation of West Nile virus (WNV) infection. We report a 39-year old man with WNV infection and LETM. In neurological examination, there was a left periscapular hypotrophy, moderate weakness of left arm, decreased left brachioradialis reflex, tandem instability and gait ataxia. Cervical spine MRI showed enhancing intramedullary lesion extending from C3-C7 level. According to the neurological, EMG and MRI findings, a diagnosis of LETM, with affection of anterior horn cells of the cervical spinal cord, induced by WNV infection was established. The patient was treated with antibiotics, acyclovir and high dose-steroids, methylprednisolone (MP) 1 g/daily in intravenous infusion, for 5 consecutive days, followed by tapering doses of prednisone during the next four months. Six weeks after onset of symptoms, previously described lesion on cervical spine MRI resolved, and the patient gradually clinically improved. © 2019 Elsevier B.V.

Until now, longitudinally extensive transverse myelitis (LETM) was reported in association with various viral infections. We describe the case in which a diagnosis of LETM was established as a clinical manifestation of West Nile virus (WNV) infection. We report a 39-year old man with WNV infection and LETM. In neurological examination, there was a left periscapular hypotrophy, moderate weakness of left arm, decreased left brachioradialis reflex, tandem instability and gait ataxia. Cervical spine MRI showed enhancing intramedullary lesion extending from C3-C7 level. According to the neurological, EMG and MRI findings, a diagnosis of LETM, with affection of anterior horn cells of the cervical spinal cord, induced by WNV infection was established. The patient was treated with antibiotics, acyclovir and high dose-steroids, methylprednisolone (MP) 1 g/daily in intravenous infusion, for 5 consecutive days, followed by tapering doses of prednisone during the next four months. Six weeks after onset of symptoms, previously described lesion on cervical spine MRI resolved, and the patient gradually clinically improved. © 2019 Elsevier B.V.

To date, generic questionnaires have been used to investigate quality of life (QoL) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients. Although these measures are very useful, they are not usually precise enough to measure all specific characteristics of the disease. Our aim was to investigate QoL using the neuromuscular disease-specific questionnaire (individualized neuromuscular quality of life, INQoL) in a large cohort of patients with CIDP. Our study comprised 106 patients diagnosed with CIDP. INQoL questionnaire, Medical Research Council (MRC) sum score, Inflammatory Neuropathy Cause and Treatment (INCAT) disability score, Visual Analogue Pain Scale, Beck Depression Inventory, and Krupp's Fatigue Severity Scale were used in our study. Physical domains of INQoL were more affected than mental, and the overall score was 57 ± 25. Significant predictors of higher INQoL score in our patients with CIDP were severe fatigue (β = 0.35, p < 0.01), higher INCAT disability score at time of testing (β = 0.29, p < 0.01), and being unemployed/retired (β = 0.22, p < 0.05). QoL was reduced in our cohort of CIDP patients, which was more pronounced in physical segments. Patients with fatigue, more severe disability, and unemployed/retired need special attention of neurologists because they could be at greater risk to have worse QoL. © 2018 Peripheral Nerve Society

To date, generic questionnaires have been used to investigate quality of life (QoL) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients. Although these measures are very useful, they are not usually precise enough to measure all specific characteristics of the disease. Our aim was to investigate QoL using the neuromuscular disease-specific questionnaire (individualized neuromuscular quality of life, INQoL) in a large cohort of patients with CIDP. Our study comprised 106 patients diagnosed with CIDP. INQoL questionnaire, Medical Research Council (MRC) sum score, Inflammatory Neuropathy Cause and Treatment (INCAT) disability score, Visual Analogue Pain Scale, Beck Depression Inventory, and Krupp's Fatigue Severity Scale were used in our study. Physical domains of INQoL were more affected than mental, and the overall score was 57 ± 25. Significant predictors of higher INQoL score in our patients with CIDP were severe fatigue (β = 0.35, p < 0.01), higher INCAT disability score at time of testing (β = 0.29, p < 0.01), and being unemployed/retired (β = 0.22, p < 0.05). QoL was reduced in our cohort of CIDP patients, which was more pronounced in physical segments. Patients with fatigue, more severe disability, and unemployed/retired need special attention of neurologists because they could be at greater risk to have worse QoL. © 2018 Peripheral Nerve Society

Background: Only several studies analyzed the characteristics of neuropathic pain (NeP) more extensively in patients with Charcot-Marie-Tooth type 1A (CMT1A). Therefore, we sought to determine the frequency and features of NeP in CMT1A patients and to assess the association between NeP and sociodemographic and clinical characteristics of patients with CMT1A. Methods: Our research included 51 genetically diagnosed CMT1A patients. The International Association for the Study of Pain (IASP) criteria were used for diagnosis of NeP. PainDETECT questionnaire (PD-Q) was used to assess NeP features. The Medical Research Council (MRC) Sum Score, CMT Neuropathy Score (CMTNS), Overall Neuropathy Limitation Scale (ONLS) score, and Beck Depression Inventory were also used. Results: NeP was present in 15 (29.4%) patients with CMT1A. The average intensity of pain was 5.7 ± 2.2 out of 10. The most sensitive neuropathic symptoms were numbness, then tingling, and burning sensations, while the most specific symptom was allodynia. Patients with NeP more frequently reported pain in the back (p < 0.01) and the trunk (p < 0.05). Patients with NeP had more pronounced disability of the upper extremities and overall disability, as assessed by the ONLS score (p < 0.05). Depression was more frequent in patients with NeP compared with patients without NeP (66.7 to 13.9%, p < 0.01). Conclusion: NeP was present in almost one-third of the patients with CMT1A and it was moderate on average. Presence of NeP was associated with worse functional disability and depression. © 2019, Fondazione Società Italiana di Neurologia.

We sought to gather information about frequency and features of neuropathic pain (NeP) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients and to investigate course of NeP during 1-year follow-up. Study included 105 patients diagnosed with CIDP. Patients with diabetes (N = 26) were excluded. NeP was diagnosed by the official guidelines and painDETECT questionnaire (PD-Q). Medical Research Council Sum Score (MRC-SS), INCAT disability and sensory scores, and Beck Depression Inventory were also measured. PD-Q showed presence of NeP in 16 (20%) of 79 CIDP patients and their mean pain was moderate (5.1 ± 3.0 of 10). Diagnostic delay in CIDP patients with NeP was prolonged compared to CIDP patients without NeP (21 ± 28 vs 9 ± 12 months, P <.05). Slowly progressive course of the disease was more frequent in patients with NeP (81% vs 52%, P <.05). Patients with NeP had worse INCAT sensory score (P <.01), INCAT disability score (P <.05), MRC-SS, as well as worse disease outcome at time of testing (P <.05). Depression was more common in patients with NeP (69% vs 17%, P <.01). During 1-year follow-up, majority of our CIDP patients had good control of NeP with gabapentinoids or amitriptyline. NeP was common in our cohort of non-diabetic CIDP patients. It was associated with worse functional disability, worse sensory deficit, and depression. Special attention should be paid to CIDP patients with NeP because they request additional symptomatic therapy that appeared efficacious in our cohort. © 2019 Peripheral Nerve Society

We sought to gather information about frequency and features of neuropathic pain (NeP) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients and to investigate course of NeP during 1-year follow-up. Study included 105 patients diagnosed with CIDP. Patients with diabetes (N = 26) were excluded. NeP was diagnosed by the official guidelines and painDETECT questionnaire (PD-Q). Medical Research Council Sum Score (MRC-SS), INCAT disability and sensory scores, and Beck Depression Inventory were also measured. PD-Q showed presence of NeP in 16 (20%) of 79 CIDP patients and their mean pain was moderate (5.1 ± 3.0 of 10). Diagnostic delay in CIDP patients with NeP was prolonged compared to CIDP patients without NeP (21 ± 28 vs 9 ± 12 months, P <.05). Slowly progressive course of the disease was more frequent in patients with NeP (81% vs 52%, P <.05). Patients with NeP had worse INCAT sensory score (P <.01), INCAT disability score (P <.05), MRC-SS, as well as worse disease outcome at time of testing (P <.05). Depression was more common in patients with NeP (69% vs 17%, P <.01). During 1-year follow-up, majority of our CIDP patients had good control of NeP with gabapentinoids or amitriptyline. NeP was common in our cohort of non-diabetic CIDP patients. It was associated with worse functional disability, worse sensory deficit, and depression. Special attention should be paid to CIDP patients with NeP because they request additional symptomatic therapy that appeared efficacious in our cohort. © 2019 Peripheral Nerve Society

Objectives: To assess the frequency and type of peripheral neuropathy (PNP) in patients with myotonic dystrophy type 1 (DM1), as well as to identify factors that may be associated with this abnormality. Methods: This study comprised 111 adult patients with DM1. Nerve conduction study was performed on sural, peroneal and median nerves of both limbs. Results: PNP was somewhat more frequent in DM1 patients with glucose intolerance and diabetes mellitus (66.7 vs 33.7%, P=0.05). In DM1 patients with no glucose intolerance, diabetes mellitus and thyroid dysfunction, the most frequent type of PNP was demyelinating (70.0%) and motor (83.3%). PNP was more frequent in males (45.7 vs 20.9%, P<0.05). Patients with PNP were older (43.7±7.3 vs 39.6±9.6 years, P<0.05) and had a longer duration of DM1 compared to those without PNP (18.6±9.9 vs 12.7±8.3 years, P<0.01). DM1 patients with PNP had a higher body mass index) (24.9±5.5 vs 22.4±4.2 kg/cm2, P<0.05), higher triglycerides (3.1±3.3 vs 1.8±0.8 mmol/l, P<0.01), total cholesterol (6.2±1.4 vs 5.4±1.1 mmol/l) and LDL cholesterol (4.3±1.2 vs 3.4±1.0, P<0.05). Achilles reflexes were absent in 76.9% patients with PNP and in 51.9% patients without PNP (P<0.05). Patellar reflexes and muscle strength were similar in both groups (P<0.05). Conclusions: PNP was present in one-third of DM1 patients. The most common type was motor and demyelinating PNP. Our results suggest the association between the presence of peripheral nerve impairment in DM1 and male gender, age, duration of disease and certain metabolic parameters. © W. S. Maney & Son Ltd 2013.

Objectives: To assess the frequency and type of peripheral neuropathy (PNP) in patients with myotonic dystrophy type 1 (DM1), as well as to identify factors that may be associated with this abnormality. Methods: This study comprised 111 adult patients with DM1. Nerve conduction study was performed on sural, peroneal and median nerves of both limbs. Results: PNP was somewhat more frequent in DM1 patients with glucose intolerance and diabetes mellitus (66.7 vs 33.7%, P=0.05). In DM1 patients with no glucose intolerance, diabetes mellitus and thyroid dysfunction, the most frequent type of PNP was demyelinating (70.0%) and motor (83.3%). PNP was more frequent in males (45.7 vs 20.9%, P<0.05). Patients with PNP were older (43.7±7.3 vs 39.6±9.6 years, P<0.05) and had a longer duration of DM1 compared to those without PNP (18.6±9.9 vs 12.7±8.3 years, P<0.01). DM1 patients with PNP had a higher body mass index) (24.9±5.5 vs 22.4±4.2 kg/cm2, P<0.05), higher triglycerides (3.1±3.3 vs 1.8±0.8 mmol/l, P<0.01), total cholesterol (6.2±1.4 vs 5.4±1.1 mmol/l) and LDL cholesterol (4.3±1.2 vs 3.4±1.0, P<0.05). Achilles reflexes were absent in 76.9% patients with PNP and in 51.9% patients without PNP (P<0.05). Patellar reflexes and muscle strength were similar in both groups (P<0.05). Conclusions: PNP was present in one-third of DM1 patients. The most common type was motor and demyelinating PNP. Our results suggest the association between the presence of peripheral nerve impairment in DM1 and male gender, age, duration of disease and certain metabolic parameters. © W. S. Maney & Son Ltd 2013.

Introduction: Charcot-Marie-Tooth type 1A (CMT1A) comprises ~50% of all CMT cases. CMT1A is a slowly progressive motor and sensory neuropathy that leads to significant disability. We aimed to investigate the quality of life (QoL) in Serbian patients with CMT1A and to assess sociodemographic and clinical features associated with their QoL. Material and Methods: Forty-five genetically confirmed patients with CMT1A were included −60% women [age 50.4 ± 12.6 years, disease duration 22 (12.5–31.5) years]. SF-36, Medical Research Council (MRC) Sum Score, CMT Examination Score (CMTES), Overall Neuropathy Limitation Scale (ONLS), Beck Depression Inventory (BDI), and Krupp's Fatigue Severity Scale (FSS) were used in the study. Results: Regarding SF-36, Mental Health and Social Functioning were the scales with the best achievements, whereas Role Physical was the worst domain. Worse QoL in patients with CMT1A was associated with elder age (rho = −0.34, p < 0.05), longer disease duration (rho = −0.31, p < 0.05), more pronounced muscle weakness measured by MRC-SS (rho = 0.43, p < 0.01), presence of tremor (p < 0.05), worse CMTES (rho = −0.68, p < 0.01), more severe disability in upper (rho = −0.70, p < 0.01) and lower limbs (rho = −0.61, p < 0.01) measured by ONLS scores, use of walking aids (p < 0.01), and with depression (p < 0.01) and fatigue (p < 0.01). Worse scores on CMTES (beta = −0.43, p < 0.01), BDI (beta = −0.39, p < 0.01), and FSS (beta = −0.36, p < 0.01) were significant independent predictors of worse QoL in patients with CMT1A (adjusted R2 = 0.77, p < 0.001). Conclusion: Besides impairment made directly by CMT1A itself, QoL in these patients was also strongly affected by the presence of depression and fatigue. Since CMT1A is still not a curable disease, it is of interest to identify factors associated with QoL that are amenable to treatment. Copyright © 2022 Ivanovic, Bjelica, Palibrk, Brankovic, Bozovic, Basta, Savic, Stojanovic and Kacar.

Introduction: Charcot-Marie-Tooth type 1A (CMT1A) comprises ~50% of all CMT cases. CMT1A is a slowly progressive motor and sensory neuropathy that leads to significant disability. We aimed to investigate the quality of life (QoL) in Serbian patients with CMT1A and to assess sociodemographic and clinical features associated with their QoL. Material and Methods: Forty-five genetically confirmed patients with CMT1A were included −60% women [age 50.4 ± 12.6 years, disease duration 22 (12.5–31.5) years]. SF-36, Medical Research Council (MRC) Sum Score, CMT Examination Score (CMTES), Overall Neuropathy Limitation Scale (ONLS), Beck Depression Inventory (BDI), and Krupp's Fatigue Severity Scale (FSS) were used in the study. Results: Regarding SF-36, Mental Health and Social Functioning were the scales with the best achievements, whereas Role Physical was the worst domain. Worse QoL in patients with CMT1A was associated with elder age (rho = −0.34, p < 0.05), longer disease duration (rho = −0.31, p < 0.05), more pronounced muscle weakness measured by MRC-SS (rho = 0.43, p < 0.01), presence of tremor (p < 0.05), worse CMTES (rho = −0.68, p < 0.01), more severe disability in upper (rho = −0.70, p < 0.01) and lower limbs (rho = −0.61, p < 0.01) measured by ONLS scores, use of walking aids (p < 0.01), and with depression (p < 0.01) and fatigue (p < 0.01). Worse scores on CMTES (beta = −0.43, p < 0.01), BDI (beta = −0.39, p < 0.01), and FSS (beta = −0.36, p < 0.01) were significant independent predictors of worse QoL in patients with CMT1A (adjusted R2 = 0.77, p < 0.001). Conclusion: Besides impairment made directly by CMT1A itself, QoL in these patients was also strongly affected by the presence of depression and fatigue. Since CMT1A is still not a curable disease, it is of interest to identify factors associated with QoL that are amenable to treatment. Copyright © 2022 Ivanovic, Bjelica, Palibrk, Brankovic, Bozovic, Basta, Savic, Stojanovic and Kacar.

Although limb–girdle muscular dystrophies (LGMD) can cause permanent disability, to date there are no studies that examined quality of life (QoL) in these patients. Our aim was to evaluate QoL in patients with LGMD, and to identify the most significant predictors of QoL. The study comprised 46 patients with diagnosis of limb–girdle muscular weakness. QoL in patients was evaluated using two scales—SF-36 questionnaire and the Individualized Neuromuscular Quality of Life questionnaire (INQoL). Following scales were also applied: Epworth Sleepiness Scale (ESS), Hamilton Scale for Depression (HamD), and Krupp’s Fatigue Severity Scale (FSS). Mean SF-36 score was 52.4 ± 23.5, and physical composite score was worse than mental. Total INQoL score was 46.1 ± 20.4, with worst results obtained for weakness, fatigue and independence, while social relationships and emotions showed better results. Significant predictors of worse SF-36 score in LGMD patients were higher fatigue level (β = − 0.470, p < 0.01) and use of assistive device (β = − 0.245, p < 0.05). Significant predictors of worse INQoL score were higher fatigue level (β = 0.514, p < 0.01) and presence of cardiomyopathy (β = − 0.385, p < 0.01). It is of special interest that some of the identified factors that correlated with worse QoL in LGMD patients were amenable to treatment. © 2017, Belgian Neurological Society.

Introduction and aim: Multifocal motor neuropathy (MMN) is a rare, chronic disorder with potentially severe and progressive disability, which may affect patients' quality of life (QoL). Since there is still small number of studies that predominantly investigated QoL in patients with MMN, we sought to analyze QoL in these patients. Materials and methods: Our study comprised 17 patients diagnosed with MMN at the same clinic. Following scales were used: SF-36 questionnaire, INCAT disability scale, Krupp's Fatigue Severity scale, and Beck Depression Inventory. Results: Physical domains of QoL were slightly more affected than mental ones, but with no statistical significance (64.8 ± 22.3 vs. 70.0 ± 19.5, p > 0.05). Total SF-36 score was 69.2 ± 19.9. INCAT arm disability score at testing was found to correlate with the total SF-36 score (rho = −0.603, p < 0.05). INCAT arm disability score at diagnosis (rho = −0.57, p < 0.05) and at testing (rho = −0.48, p = 0.05) correlated with physical composite score (PCS). Disease duration (rho = −0.51, p < 0.05) and INCAT arm disability score at testing (rho = −0.60, p = 0.01) were associated with mental composite score (MCS). Conclusion: QoL in patients with MMN was reduced, especially in physical domains. Although arm disability was the most significant parameter which affected QoL of MMN patients in both physical and mental aspects, longer disease duration should not be underestimated as a psychological burden for these patients. © 2019 Elsevier B.V.