•The symptoms of myotonia disappeared four weeks after starting methylprednisolone.•The first symptoms of myotonia returned about a month after the last dose.•Myotonia severity was expressed as ...relaxation time after voluntary contraction.•The relaxation time improved from 1.3 s to normal value of 0.2 s.
We report the case of a patient suffering from duplicity of myotonic dystrophy type 1 and ulcerative colitis whose treatment for ulcerative colitis included repeated administrations of descending doses of methylprednisolone and in whom we found an association between methylprednisolone dosing and cessation of myotonia. Myotonia severity was expressed as relaxation time after voluntary contraction and as a patient-reported outcome using the Czech version of the Myotonia Behavior Scale. The patient was being treated for a flare of ulcerative colitis, starting with 32 mg of methylprednisolone and reducing the dose by 4 mg a week. The symptoms of myotonia began to wear off three weeks after starting methylprednisolone and had totally disappeared by four weeks after starting methylprednisolone. The first symptoms of myotonia returned about a month after the last dose of methylprednisolone and reached a peak of severity more than two months after the final dose.
ABSTRACT
Introduction: The objective of this study was to develop a simple method for quantitative assessment of myotonia in patients with myotonic dystrophy type 1 (DM1) and DM2, to compare the ...myotonia severity, and to correlate this objective outcome with a subjective scale, the Myotonia Behaviour Scale (MBS). Methods: A commercially available dynamometer was used for all measurements. The relaxation time after voluntary contraction was measured in 20 patients with DM1, 25 patients with DM2, and 35 healthy controls. Results: The average relaxation time was 0.17 s in controls, 2.96 s in patients with DM1, and 0.4 s in patients with DM2. The correlation between relaxation time and MBS score was significant, 0.627 in patients with DM1 and 0.581 in patients with DM2. Discussion: Our method provides a valid and reliable quantitative measure of grip myotonia suitable as an outcome measure in clinical trials and as part of routine examinations to gather data on the natural history of myotonic disorders. Muscle Nerve 59:431–435, 2019
•Swallowing difficulties are an important and common symptom of multiple sclerosis.•Higher EDSS, female gender and older age have been identified as risk factors.•The dysphagia in multiple sclerosis ...questionnaire and the timed water swallow test have both been shown to be effective in detecting dysphagia.•Both tests are more sensitive than the simple question about swallowing problems.•Their results only partially overlap, so their combination increases the detection of dysphagia in multiple sclerosis.
In multiple sclerosis (MS), dysphagia is an important and common clinical symptom. Although often overlooked and underdiagnosed, it can have a significant impact on a patient's life, including social integration, and it can lead to malnutrition, aspiration pneumonia, and suffocation, i.e., life-threatening complications. Early detection of dysphagia is essential to prevent these risks. However, the optimal screening method and the inter-relationship between different methods used for dysphagia screening are not clear. The aim of this study was to compare the diagnostic performance of a simple question about swallowing problems, the DYsphagia in MUltiple Sclerosis (DYMUS) swallowing questionnaire, and the Timed Water Swallowing Test (TWST) to detect dysphagia in people with relapsing-remitting MS (RRMS).
Patients with MS were asked about subjective swallowing difficulties and, regardless of their response, completed the DYMUS questionnaire and underwent the TWST at their routine follow-up visit. Patients with at least one positive screening method were offered an objective assessment of swallowing function using the Fiberoptic Endoscopic Evaluation of Swallowing (FEES). The results were statistically analyzed and correlated with demographic and MS-related parameters.
Of the 304 people with RRMS enrolled in the study, 46 (15.1 %) reported having subjective difficulty swallowing when asked a simple question. The DYMUS questionnaire was positive in 59 (19.4 %) of the 304 patients; 51 (16.8 %) had an abnormality on the TWST. A clear correlation (r = 0.351, p < 0.01) was found between the DYMUS and TWST results, but a significant proportion of patients (about half) had an abnormality on only one of these tests. The positivity of at least one of the screening methods used (DYMUS or TWST) had a better chance of identifying a patient with dysphagia than a simple question (p < 0.001). Of the patients with a positive result for difficulty swallowing, 37 underwent FEES, which confirmed dysphagia in 94.6% of this subgroup. Patients with higher Expanded Disability Status Scale (EDSS) scores, female gender, and older age were at higher risk of developing dysphagia.
The DYMUS questionnaire and TWST had a confirmed potential to identify more patients with dysphagia than a simple question about swallowing problems. However, our study found only a partial overlap between DYMUS and TWST; a combination of these two methods was more sensitive in identifying patients with MS at risk of dysphagia. Furthermore, the screening showed excellent specificity: almost 95 % of the positively screened patients had dysphagia confirmed by objective methods. Age, female gender, and a higher EDSS score appear to be potential risk factors for dysphagia in patients with MS.
Robust voxelwise analysis using tract-based spatial statistics (TBSS) together with permutation statistical method is standardly used in analyzing diffusion tensor imaging (DTI) of brain. A similar ...analytical method could be useful when studying DTI of cervical spinal cord.
Based on anatomical data of sixty-four healthy volunteers, white (WM) and gray matter (GM) masks were created and subsequently registered into DTI space. Using TBSS, two skeleton types were created (single line and dilated for WM as well as GM). From anatomical data, percentage rates of overlap were calculated for all skeletons in relation to WM and GM masks.
Voxelwise analysis of fractional anisotropy values depending on age and sex was conducted. Correlation of fraction anisotropy values with age of subjects was also evaluated. The two WM skeleton types showed a high overlap rate with WM masks (~94%); GM skeletons showed lower rates (56% and 42%, respectively, for single line and dilated). WM and GM areas where fraction anisotropy values differ between sexes were identified (p < .05). Furthermore, using voxelwise analysis such WM voxels were identified where fraction anisotropy values differ depending on age (p < .05) and in these voxels linear dependence of fraction anisotropy and age (r = −0.57, p < .001) was confirmed by regression analysis. This dependence was not proven when using WM anatomical masks (r = −0.21, p = .10).
The analytical approach presented shown to be useful for group analysis of DTI data for cervical spinal cord.
It is not known whether the results of decompressive surgery to treat the mild and moderate forms of spondylotic cervical myelopathy (CSM) are any better than those of a conservative approach. A ...10-year prospective randomised study was performed. The objective of the study was to compare conservative and operative treatments of mild and moderate, non-progressive, or slowly progressive, forms of CSM. Sixty-four patients were randomised into two groups of 32. Group A was treated conservatively while group B was treated surgically. The clinical outcome was evaluated by modified JOA score, timed 10-m walk, score of daily activities recorded by video and evaluated by two observers blinded to the type of therapy, and by subjective assessment by the patients themselves. Seventeen patents died of natural, unrelated causes, during the follow-up. A total of 25 patients in the conservatively and 22 in the surgically treated group were used for the final evaluation. There was no statistically significant difference between both groups in mJOA score, in subjective evaluation by the patients themselves and in evaluation of video-recordings of daily living activities by two observers blinded to treatment mode. There was neither any difference found in the percentage of patients losing the ability to walk nor in the time taken to cover the 10-m track from a standing start. Comparison of conservative and surgical treatment in mild and moderate forms of CSM in a 10-year follow-up has not shown, on average, a significant difference in results. In both groups, patients get better and worse. According to the power analysis it is necessary admit that these results possess the low ability to answer definitely the question which treatment is better for the patients with a mild and moderate non-progressive CSM because of the low number of patients for the final evaluation and for clinically negligible differences between two compared arms. These findings can serve as a worthy odds-on hypothesis which needs the confirmation.
Abstract We investigated the HLA-DRB1*1501 tagging rs3135388 gene polymorphism and its association with multiple sclerosis (MS) susceptibility, disability and gender differences. The study group ...consisted of 306 MS patients and 137 healthy individuals. A significant difference in genotype distribution (Pg = 3.06 × 10 − 9 ) and allele frequency (Pa = 6.08 × 10 − 10 ) between MS patients and controls was demonstrated. The homozygotes AA and heterozygotes GA were more frequent in MS patients (OR = 4.27, 95% CI: 2.64–6.92). A significant difference between female MS patients and female controls in genotype distribution (Pg = 1.3 × 10 − 8 ) and allele frequency (Pa = 2.82 × 10 − 9 ); (OR = 5.11, 95% CI: 2.86–9.15) was also proved. Our results indicate that the distribution of the rs3135388 gene polymorphism is a risk factor for MS susceptibility in the Czech female population.
Background and purpose
Non‐myelopathic degenerative cervical spinal cord compression (NMDC) frequently occurs throughout aging and may progress to potentially irreversible degenerative cervical ...myelopathy (DCM). Whereas standard clinical magnetic resonance imaging (MRI) and electrophysiological measures assess compression severity and neurological dysfunction, respectively, underlying microstructural deficits still have to be established in NMDC and DCM patients. The study aims to establish tract‐specific diffusion MRI markers of electrophysiological deficits to predict the progression of asymptomatic NMDC to symptomatic DCM.
Methods
High‐resolution 3 T diffusion MRI was acquired for 103 NMDC and 21 DCM patients compared to 60 healthy controls to reveal diffusion alterations and relationships between tract‐specific diffusion metrics and corresponding electrophysiological measures and compression severity. Relationship between the degree of DCM disability, assessed by the modified Japanese Orthopaedic Association scale, and tract‐specific microstructural changes in DCM patients was also explored.
Results
The study identified diffusion‐derived abnormalities in the gray matter, dorsal and lateral tracts congruent with trans‐synaptic degeneration and demyelination in chronic degenerative spinal cord compression with more profound alterations in DCM than NMDC. Diffusion metrics were affected in the C3‐6 area as well as above the compression level at C3 with more profound rostral deficits in DCM than NMDC. Alterations in lateral motor and dorsal sensory tracts correlated with motor and sensory evoked potentials, respectively, whereas electromyography outcomes corresponded with gray matter microstructure. DCM disability corresponded with microstructure alteration in lateral columns.
Conclusions
Outcomes imply the necessity of high‐resolution tract‐specific diffusion MRI for monitoring degenerative spinal pathology in longitudinal studies.
Tract‐specific diffusion magnetic resonance imaging revealed microstructural changes in non‐myelopathic and myelopathic degenerative spinal cord compression compared to healthy controls. Alterations were found in dorsal and lateral columns as well as gray matter and correlated with relevant electrophysiological abnormalities and clinical modified Japanese Orthopaedic Association scale.
Background and purpose
Myasthenia gravis (MG) patients could be a vulnerable group in the pandemic era of coronavirus 2019 (COVID‐19) mainly due to respiratory muscle weakness, older age and ...long‐term immunosuppressive treatment. We aimed to define factors predicting the severity of COVID‐19 in MG patients and risk of MG exacerbation during COVID‐19.
Methods
We evaluated clinical features and outcomes after COVID‐19 in 93 MG patients.
Results
Thirty‐five patients (38%) had severe pneumonia and we recorded 10 deaths (11%) due to COVID‐19. Higher forced vital capacity (FVC) values tested before COVID‐19 were shown to be protective against severe infection (95% CI 0.934–0.98) as well as good control of MG measured by the quantified myasthenia gravis score (95% CI 1.047–1.232). Long‐term chronic corticosteroid treatment worsened the course of COVID‐19 in MG patients (95% CI 1.784–111.43) and this impact was positively associated with dosage (p = 0.005). Treatment using azathioprine (95% CI 0.448–2.935), mycophenolate mofetil (95% CI 0.91–12.515) and ciclosporin (95% CI 0.029–2.212) did not influence the course of COVID‐19. MG patients treated with rituximab had a high risk of death caused by COVID‐19 (95% CI 3.216–383.971). Exacerbation of MG during infection was relatively rare (15%) and was not caused by remdesivir, convalescent plasma or favipiravir (95% CI 0.885–10.87).
Conclusions
As the most important predictors of severe COVID‐19 in MG patients we identified unsatisfied condition of MG with lower FVC, previous long‐term corticosteroid treatment especially in higher doses, older age, the presence of cancer, and recent rituximab treatment.
In this retrospective cohort study we observed 93 adult MG patients with COVID‐19 infection and as the most important predictors of severe COVID‐19 infection we identified unsatisfied condition of MG with lower forced vital capacity and previous long‐term corticosteroid treament especially in higher doses, older age, the presence of cancer, and recent rituximab treatment. Immunosuppressive treatment in stable MG patients does not affect the course of COVID‐19 infection and could lower risk of exacerbation of MG during COVID‐19.
Diffusion magnetic resonance imaging (dMRI) proved promising in patients with non-myelopathic degenerative cervical cord compression (NMDCCC), i.e., without clinically manifested myelopathy. Aim of ...the study is to present a fast multi-shell HARDI-ZOOMit dMRI protocol and validate its usability to detect microstructural myelopathy in NMDCCC patients. In 7 young healthy volunteers, 13 age-comparable healthy controls, 18 patients with mild NMDCCC and 15 patients with severe NMDCCC, the protocol provided higher signal-to-noise ratio, enhanced visualization of white/gray matter structures in microstructural maps, improved dMRI metric reproducibility, preserved sensitivity (SE = 87.88%) and increased specificity (SP = 92.31%) of control-patient group differences when compared to DTI-RESOLVE protocol (SE = 87.88%, SP = 76.92%). Of the 56 tested microstructural parameters, HARDI-ZOOMit yielded significant patient-control differences in 19 parameters, whereas in DTI-RESOLVE data, differences were observed in 10 parameters, with mostly lower robustness. Novel marker the white-gray matter diffusivity gradient demonstrated the highest separation. HARDI-ZOOMit protocol detected larger number of crossing fibers (5-15% of voxels) with physiologically plausible orientations than DTI-RESOLVE protocol (0-8% of voxels). Crossings were detected in areas of dorsal horns and anterior white commissure. HARDI-ZOOMit protocol proved to be a sensitive and practical tool for clinical quantitative spinal cord imaging.
The lecture aims at summarizing latest possibilities and trends in the diagnostics of polyneuropathy with stress laid on neurophysiological methods. Diagnostics of polyneuropathy is traditionally ...based on clinical findings and electromyography (EMG). EMG confirms diffuse involvement of peripheral nervous system (PNS) usually detected clinically; in addition, it more closely characterizes PNS involvement (distribution, degree, duration of involvement, its dynamics, type of involvement including differentiation between axonal and demyelinating neuropathy), and it may detect subclinical involvement. Standardization, reproducibility and availability are among advantages of the EMG. On the other hand, EMG reflects the involvement of large myelinated fibres (with a diameter >7 μm), that form about 15% of nerve fibres only and they usually did not serve as the initial target in most of polyneuropathies. Diagnosing demyelinating polyneuropathy is reliable in motor fibres only and is based on the detection of conduction slowing, temporal dispersion and conduction block. Criteria of conduction block have been changing last decades and with respect to experimental findings they have finally been agreed on >50% area of a proximal compound muscle action potential reduction relative to a distal one. Differential diagnosis of demyelinating conduction block in addition to inadequate stimulation especially from Erb’s point from technical reasons comprises blocks of other than demyelinating origin (such as in multifocal motor neuropathy). In axonal neuropathies, s.c. pseudoblock (“length dependent conduction block”) due to ongoing Wallerian degeneration, or axonal block (“reversible acute conduction failure”) due to dysfunction of sodium channels in nodal region caused by autoantibodies (for instance in acute motor axonal neuropathy – AMAN) could be encountered. The presence of axonal block could lead to underestimation of AMAN in Guillain–Barré syndrome (GBS) that is falsely marked as acute inflammatory demyelinating polyneuropathy (AIDP) during one-time examination. This fact indicates the necessity of repeated neurophysiological evaluation of GBS. There are, however, no generally accepted neurophysiological criteria for both GBS and chronic inflammatory demyelinating neuropathy (CIDP). Involvement of small sensory and autonomic fibres – s.c. small fibre neuropathy (SFN) is a prevalent and usually initial type of involvement in diabetic polyneuropathy and most polyneuropathies of other origin. Valid diagnostic methods detecting SFN, however, have been lacking until recently. Involvement of sensory small fibres manifests itself by positive sensory symptoms including neuropathic pain. Validated screening methods, such as DN4, PainDETECT or recently validated Czech version of the Neuropathic Pain Symptom Inventory are used for differentiation between neuropathic and nociceptive pain. Verification of thermal and pain perception is a necessary part of clinical evaluation. Semi-quantitative bedside sensory tests are easily available, but offers rough estimate only. Quantitative sensory testing, especially psychophysical method of evaluation of thermal sensory perception, is much more valid. Recently proposed diagnostic criteria for diabetic polyneuropathy, in addition to the evidence of large fibre involvement proved by EMG, also comprises proof of SFN with a validated class A marker, represented currently by the decrease of intra-epidermal nerve fibre density obtained with skin biopsy. Corneal confocal microscopy quantifying sensory small fibres in the Bowman layer of corneal becomes a promising non-invasive alternative of skin biopsy in the detection of SFN. The only neurophysiological method that showed ability to detect SFN are contact heat-evoked potentials.
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