Pregnancy planning may impact maternal and neonatal outcomes in people with myasthenia gravis.

INTRODUCTION: Myasthenia Gravis (MG) is an acquired autoimmune condition commonly diagnosed in young people of reproductive age resulting in neuromuscular junction dysfunction. The course of MG during pregnancy and its impact on maternal and neonatal outcomes is vary in the literature. Pregnancy planning is a known strategy and modifiable risk factor in obstetric practice to decrease maternal and neonatal morbidity. We aim to assess if planning a pregnancy impacts maternal and neonatal outcomes, MG exacerbation, and pregnancy-related complications. METHODS: This study utilized data from an online, North American survey entitled "A Patient Centered study on Pregnancy in People with Myasthenia Gravis", distributed with the assistance of MG advocacy groups in the United States and Canada. It included individuals with MG who had at least one pregnancy in the last 10-years. Key maternal and neonatal outcomes were compared between planned and unplanned pregnancies. RESULTS: Out of 156 survey participants, 58 had a pregnancy following MG diagnosis, totaling 90 reported pregnancies. Of these, 56 (62.2%) were planned and 34 (37.8%) were unplanned pregnancies. The unplanned pregnancies were associated with more MG exacerbations, hospitalizations, and intensive care unit admission (37.7% vs. 13.7%, 26.5% vs. 11%, and 17.6% vs. 8.9%, respectively, p ≤ .05). The neonatal outcomes did not significantly differ between the groups. DISCUSSION: Planned pregnancies in people with MG may be associated with a reduced gestational and post-partum risk of MG exacerbation, hospitalizations, and ICU admissions. Larger studies are required to confirm this association and account for potential contributing variables.

Clinical characteristics and treatment outcomes in patients with double-seronegative myasthenia gravis.

BACKGROUND AND PURPOSE: Double-seronegative myasthenia gravis (dSNMG) is defined as myasthenia gravis (MG) without detectable or low affinity antibodies to acetylcholine receptor (AChR) and muscle-specific kinase (MuSK). There are limited data on detailed clinical features and outcomes after treatment in dSNMG patients. The aim was to describe the clinical characteristics and outcomes in dSNMG patients based on MG scales. METHODS: A retrospective study was performed of patients diagnosed with MG who had negative AChR or MuSK antibodies and they were compared with an AChR-positive MG cohort. Correlations were made with data from the first and last clinic visits, between demographics, clinical characteristics, treatment and disease severity, based on the Myasthenia Gravis Foundation of America category, Myasthenia Gravis Impairment Index (MGII), Patient Acceptable Symptom State and simple single question (SSQ). RESULTS: Eighty patients met the inclusion criteria for dSNMG. The baseline MGII and SSQ scores in the dSNMG cohort showed no significant differences from the AChR group (p = 0.94 and p = 0.46). The dSNMG cohort MGII and SSQ scores improved significantly at the last clinical evaluation (p = 0.001 and p = 0.047). The MGII improvement in the AChR cohort was significantly better (p = 0.003). CONCLUSIONS: The initial severity of dSNMG based on clinical scores is similar to antibody-positive MG patients. There is significant clinical improvement in dSNMG patients after therapy, measured in the last clinical evaluation. This supports an immune pathophysiology of many dSNMG patients.

Recommendations for assessing appearance concerns related to plexiform and cutaneous neurofibromas in neurofibromatosis 1 clinical trials.

BACKGROUND/AIMS: Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance concerns related to these physical changes can lead to psychological distress and poorer quality of life. While many neurofibromatosis 1 clinical trials focus on assessing changes in tumor volume, evaluating patients' perspectives on corresponding changes in symptoms such as physical appearance can be key secondary outcomes. We aimed to determine whether any existing patient-reported outcome measures are appropriate for evaluating changes in appearance concerns within neurofibromatosis 1 clinical trials. METHODS: After updating our previously published systematic review process, we used it to identify and rate existing patient-reported outcome measures related to disfigurement and appearance. Using a systematic literature search and initial triage process, we focused on identifying patient-reported outcome measures that could be used to evaluate changes in appearance concerns in plexiform or cutaneous neurofibroma clinical trials in neurofibromatosis 1. Our revised Patient-Reported Outcome Rating and Acceptance Tool for Endpoints then was used to evaluate each published patient-reported outcome measures in five domains, including (1) respondent characteristics, (2) content validity, (3) scoring format and interpretability, (4) psychometric data, and (5) feasibility. The highest-rated patient-reported outcome measures were then re-reviewed in a side-by-side comparison to generate a final consensus recommendation. RESULTS: Eleven measures assessing appearance concerns were reviewed and rated; no measures were explicitly designed to assess appearance concerns related to neurofibromatosis 1. The FACE-Q Craniofacial Module-Appearance Distress scale was the top-rated measure for potential use in neurofibromatosis 1 clinical trials. Strengths of the measure included that it was rigorously developed, included individuals with neurofibromatosis 1 in the validation sample, was applicable to children and adults, covered item topics deemed important by neurofibromatosis 1 patient representatives, exhibited good psychometric properties, and was feasible for use in neurofibromatosis 1 trials. Limitations included a lack of validation in older adults, no published information regarding sensitivity to change in clinical trials, and limited availability in languages other than English. CONCLUSION: The Response Evaluation in Neurofibromatosis and Schwannomatosis patient-reported outcome working group currently recommends the FACE-Q Craniofacial Module Appearance Distress scale to evaluate patient-reported changes in appearance concerns in clinical trials for neurofibromatosis 1-related plexiform or cutaneous neurofibromas. Additional research is needed to validate this measure in people with neurofibromatosis 1, including older adults and those with tumors in various body locations, and explore the effects of nontumor manifestations on appearance concerns in people with neurofibromatosis 1 and schwannomatosis.

Demographic and clinical determinants of the quality of life in adults with inherited and acquired myopathies.

BACKGROUND AND PURPOSE: Measuring health-related quality of life (QOL) is vital for understanding the disease impact, but the complex relationship between clinical parameters and QOL remains unclear. The objective was to determine the demographic and clinical factors that influence the QOL in adults with inherited and acquired myopathies. METHODS: The study was of cross-sectional design. Detailed demographic and clinical details were collected. Patients answered Neuro-QOL and Patient-Reported Outcomes Measurement Information System short-form questionnaires. RESULTS: Data was collected from 100 consecutive in-person patient visits. Mean age of the cohort was 49.5 ± 20.1 (18-85) years, and the majority were male (53, 53%). Bivariate analysis between the various demographic and clinical features with the QOL scales revealed single simple question (SSQ), handgrip strength, Medical Research Council (MRC) sum score, female gender, and age to be nonuniformly associated with the QOL scales. There was no difference between inherited and acquired myopathies for any of the QOL scores, except for the poorer lower limb function domain in inherited myopathies (36.7 ± 7.3 vs. 40.9 ± 11.2, p = 0.049). Linear regression models revealed lower SSQ, lower handgrip strength, and lower MRC sum score to independently predict poor QOL. CONCLUSIONS: Handgrip strength and SSQ serve as novel predictors of QOL in myopathies. Handgrip strength has a significant impact on physical, mental, and social domains and deserves special attention with respect to rehabilitation. SSQ correlates well with QOL and can be employed as a quick and global assessment of a patient's well-being. Differences in QOL scores between patients with inherited and acquired myopathies were minimal.

Retrospective study on the safety of COVID-19 vaccination in myasthenia gravis.

INTRODUCTION/AIM: Given the lack of information on safety of coronavirus disease 2019 (COVID-19) vaccination in myasthenia gravis (MG) patients, we aimed to review our experience after surveying patients, as part of routine clinical practice, to ensure that advice on safety is accurate. METHODS: We performed a retrospective chart review of MG patients from the Prosserman Family Neuromuscular Clinic at the Toronto General Hospital who received two injections of any COVID-19 vaccine from February to August 2021. Demographic data were abstracted from the patient medical records. We assessed changes in the severity of MG using the virtual Myasthenia Gravis Impairment Index (vMGII), the simple single question (SSQ), and Patient Acceptable Symptom State (PASS). We also assessed adverse effects after vaccination. RESULTS: We included 200 patients with a mean age of 64.3 ± 13.9 y, 51.5% were men, and 82% had generalized MG. The vMGII, SSQ, and PASS scores remained stable after each vaccine dose, and at last follow-up. Of the patients, 60% reported an adverse reaction after the first injection, and 56% after the second. The most common adverse reactions reported were local pain at the injection site, fatigue, headache, and fever. DISCUSSION: COVID-19 vaccinations were well tolerated in MG patients and were not associated with worsening severity of their MG. The prevalence of vaccine-related adverse reactions was the same as in the general population.

Validation of the Italian version of the Myasthenia Gravis Impairment Index (MGII).

OBJECTIVE: To validate the Italian version of the Myasthenia Gravis Impairment Index (MGII). INTRODUCTION: MGII is a recent promising measure developed for MG patient evaluation. It includes a clinical severity evaluation and a patient-reported questionnaire. It has been developed in English and has demonstrated feasibility, reliability, and construct validity. Recently, its Dutch translation has been validated. METHODS: MGII was translated to Italian with a multi-step forward process. We assessed correlations with the following scores: Istituto Nazionale Carlo Besta score for Myasthenia Gravis (INCB-MG), the MG Activities of Daily Living (MG-ADL), the Myasthenia Gravis Composite (MGC), the Quality of Life 15 for Myasthenia Gravis (QOL15-MG), and the Myasthenia Gravis Disability (MGDIS). We also assessed differences in MGII scores by disease severity with the ANOVA Kruskal-Wallis test. RESULTS: One hundred forty-one patients were enrolled. The mean MGII total score was 13.3 ± 11.9 (range 0-49), with a mean ocular subscore of 3.7 ± 4.7 and a mean MGII generalized subscore of 9.6 ± 9.0. As expected, the MGII had a good correlation with the other severity scores. The MGII had a lower floor effect (3.5%) than the other measures. Twenty-five patients were assessed in follow-up; as expected, the MGII change scores had moderate correlations with change in other MG severity measures and lower correlations with quality of life measures. CONCLUSIONS: The MGII score was cross-culturally validated in an Italian cohort of MG patients. We confirmed its lower floor effect and the correlations with other MG measures including INCB-MG that was not evaluated in previous studies.

Clinical profile and impact of comorbidities in patients with very-late-onset myasthenia gravis.

INTRODUCTION/AIMS: The purpose of this study was to evaluate the clinical profile of myasthenia gravis (MG) in older patients and determine the impact of medical comorbidities on their MG status and outcome. METHODS: This was a retrospective chart review of patients with a symptom onset of MG at or after 65 years of age. Correlations were made between demographics, clinical characteristics, the Myasthenia Gravis Foundation of America (MGFA) severity scale scores, and Myasthenia Gravis Impairment Index (MGII) scores with two outcome measures: MGFA Post-Intervention Status (MGFA-PIS) and Simple Single Question (SSQ). RESULTS: The study population included 109 patients, with 90 of them having more than one follow-up visit. Their mean age was 75.3 ± 6.9 years and sex distribution was even. Of these patients, 67.7% had generalized MG. Nine-one percent of patients had one comorbidity. None of the demographic factors or comorbidities showed an association with MGFA-PIS, SSQ, or MGII after correction for multiple comparisons. Seventy-one percent of the patients improved with treatment, 12.4% remained unchanged, and 16.6% showed worsening at their last follow-up visit. DISCUSSION: Our study shows that patients with very-late-onset MG had a good prognosis and treatment response. None of the comorbidities had an impact on the severity of myasthenic symptoms or on outcome in these patients.

Telephone consultation for myasthenia gravis care during the COVID-19 pandemic: Assessment of a novel virtual myasthenia gravis index.

INTRODUCTION/AIMS: The aim of the study was to determine the association between the virtual Myasthenia Gravis Impairment Index (vMGII) with other patient-reported outcomes (PROs) of myasthenia gravis (MG) and its usefulness in telephone consultations with MG patients. METHODS: This was a retrospective case series in which vMGII score along with virtual Single Simple Question (vSSQ), virtual Patient-Acceptable Symptom State PASS (vPASS) response, and patient disease status based on Myathenia Gravis Foundation of America postintervention status were collected during telephone consultation along with the MGII, SSQ, and PASS responses during the preceding in-person clinic visits. RESULTS: In 214 patients, the mean difference of vMGII between the vPASS "Yes" and "No" groups was -14.2 ± 1.4 (95% confidence interval, -16.9 to -11.3; P < .001) with mean vMGII for vPASS "Yes" group being 6.4 ± 7.7 and vPASS "No" being 20.5 ± 11.5. A vMGII of 11.5 or higher predicted vPASS "yes" response with a sensitivity of 78.7% and specificity of 81.4%. A strong negative correlation was found between the vMGII and vSSQ (r = -.667; P < .001). The mean vMGII was 0.48 ± 1.42 for patients in remission, and 9.31 ± 10.93 for improved, 9.32 ± 8.79 for stable, and 22.58 ± 14.04 for worsened groups (P < .001). These associations were the same as those obtained during the preceding in-person clinic visit and the direction of change in MGII scores also indicated change in disease status. DISCUSSION: vMGII is an effective measure to assess an MG patient's disease status in telephone consultations and relates well with other PRO measures. The vMGII remains reliable for assessing MG disease status even with removal of the physical examination component.

Thymoma pathology and myasthenia gravis outcomes.

INTRODUCTION: There is limited evidence regarding the impact of World Health Organization (WHO) subtype of thymoma on post-thymectomy outcome of thymoma-associated myasthenia gravis (TAMG). The objective was to determine if the pathological subtypes of thymoma were associated with post-thymectomy outcomes of myasthenia gravis (MG), in patients with TAMG. METHODS: We performed a retrospective study of consecutive patients with TAMG who attended the neuromuscular clinic between January 2018 and December 2019 with a minimum follow-up of 1 y after thymectomy. Outcome measures were MG Impairment Index (MGII), single-simple question (SSQ), Myasthenia Gravis Foundation of America post-intervention status (MGFA PIS) and non-responder MG status at last assessment. RESULTS: Ninety-five patients were included; mean age at onset was 48.1 ± 12.1 y; 54(56.8%) were females. Thirteen patients developed MG post-thymectomy. The most common thymoma was WHO type B2 in 39 (41.1%). Most patients (40, 42.1%) had Masaoka stage II thymoma. There was no association of thymoma subtypes or Masaoka stage of disease with age, gender, MG phenotype, serology, post-thymectomy onset, interval from onset to thymectomy, MGII, SSQ, MGFA PIS, or non-responder status. Associations were found between positive serology and lower MGII (11.1 ± 14.2 vs 23 ± 12.9, P = .050), thymic follicular hyperplasia (TFH) and higher SSQ (89.3 ± 11.7 vs 80.1 ± 20.2, P-.043), and lack of recurrence and higher SSQ (84.1 ± 18 vs 72.5 ± 20, P = .037). DISCUSSION: The WHO pathological subtype of thymoma did not correlate with MG outcomes. However, positive acetylcholine antibody serology, presence of TFH, and non-recurrence of thymoma predict a favorable outcome.

Performance of different criteria for refractory myasthenia gravis.

BACKGROUND AND PURPOSE: Defining refractory myasthenia gravis is important, as this can drive clinical decision making, for example, by escalating treatments in refractory individuals. There are several definitions of refractory myasthenia, and their performances have not been compared. Having valid and reliable criteria can help select patients in whom more aggressive treatments may be needed. METHODS: We applied five different refractory myasthenia criteria (Drachman, Mantegazza, Suh, the International Consensus Guideline (ICG), and the randomised controlled trial of eculizumab in refractory, anti-acetylcholine receptor positive, generalised myasthenia gravis (REGAIN), to a cohort of 237 patients. We compared the proportion of refractory patients among different criteria and their scores on disease severity, fatigue, and quality-of-life (QoL) scales. We also assessed the agreement for each criterion between two trained assessors. RESULTS: The Drachman, Mantegazza, and Suh criteria resulted in high proportions of refractory individuals (40.1%, 39.2%, and 38.8%, respectively), compared with the ICG and REGAIN criteria (9.7% and 3.0%, respectively). Refractory patients by the ICG and REGAIN criteria had worse disease severity, QoL, and fatigue scores, compared with patients classified as refractory by other criteria. All criteria had high agreement between raters (between 70% and 100%). CONCLUSIONS: There is high variability in the proportion of refractory myasthenia gravis patients depending on the criteria used, with ICG and REGAIN criteria capturing patients with worse disease severity. This reflects conceptual differences as to what refractory means. Further multicenter studies are needed to determine appropriate criteria for refractory myasthenia gravis.

Myasthenia Gravis and Pregnancy: Toronto Specialty Center Experience.

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder that frequently affects young women of reproductive age. The multidirectional interplay between MG, pregnancy, and fetal health poses a complex scenario for pregnant women with MG and the healthcare team. Here, we reviewed our local experience with MG, pregnancy, and outcomes. METHODS: We performed a retrospective chart review of patients with MG attending the Prosserman Family Neuromuscular Clinic from 2001 to 2019 and who were referred to a high-risk pregnancy clinic. MG status was defined as stable, better, or worse. Information was collected on the delivery route, pregnancy, and neonatal complications. RESULTS: We identified 20 women with MG for a total of 28 pregnancies. Worsening was observed in 50% of pregnancies: 18% during pregnancy, 25% following delivery, and 7% during both. 66.7% of patients with MG duration of 2 years or less had worsening during pregnancy. Three patients who stopped immunosuppressive treatment during pregnancy worsened and one had a crisis. C-section was done in 29% of pregnancies. The rate of delivery complications was 7% and of neonatal MG was 7%. CONCLUSION: A high proportion of MG patients worsened during pregnancy, particularly those with disease duration less than 2 years, and those who discontinued immunosuppression during pregnancy. However, pregnancy was largely unaffected, rate of neonatal MG was low, frequencies of C-section, delivery complications, and premature births were similar to the general population. While the study has limitations due to the retrospective nature, these insights provide some guidance when counseling young myasthenic women about family planning.

Efficacy and safety of high infusion rate IVIG in CIDP.

BACKGROUND: We aimed to determine the safety and tolerance of higher rates of infusion of intravenous immunoglobulin (IVIG) in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: Patients began infusions with 10% IVIG at the standard rate of 0.08 mL/kg/min. If tolerated, infusion rates were incrementally increased to 0.14 mL/kg/min. We considered the frequency of infusions with adverse events (AEs) as the primary outcome. RESULTS: Nineteen of 25 patients safely tolerated the maximum rate of 0.14 mL/kg/min. We observed 25 treatment-related AEs (TAEs) over 13 infusions at standard or transitional rates, across seven patients. We observed no TAEs associated with the maximum infusion rate. CONCLUSIONS: We found that 10% IVIG can be safely administered at a high infusion rate (0.14 ml/kg/min) in most CIDP patients, reducing the treatment time and burden on healthcare resources.

Prospective study of stress, depression and personality in myasthenia gravis relapses.

BACKGROUND: Psychopathology and personality traits may influence the course of autoimmune disorders. With this prospective longitudinal cohort study, we aimed to assess personality, stress and depression in myasthenia patients who relapse and those who remain stable or improve (non-relapsers). METHOD: We collected data from 155 consecutive adult patients with confirmed MG attending the Neuromuscular Clinic, Toronto General Hospital, between March 2017 and July 2018, for this study. Patients were assessed at baseline and 6 months, or at the time of MG relapse. At both visits, the patients were assessed clinically and were asked to complete self-administered questionnaires for disease severity, chronic stress and depression. Personality type was assessed at baseline only. Relapsing patients were defined as those patients with MGII score increasing by more than 5.5 points from visit 1 to visit 2. RESULTS: Relapsers had higher baseline scores for depression (p = 0.01) and the change in disease severity correlated with the change in depression score (r = 0.2534, p = 0.0015, 95% CI: 0.098 0.3961). Higher levels of stress at baseline and neuroticism predicted higher relapse rates (p = 0.01 and p < .0001, respectively). In the linear regression model, with change of the MGII score as the dependent variable, change in depression scores (p = 0.0004) and age (p = 0.03) predicted change in disease severity. CONCLUSIONS: Since emotional factors and personality type may influence MG, attention to these factors might improve care in MG patients.

Preliminary Findings of a Dedicated Ocular Myasthenia Gravis Rating Scale: The OMGRate.

There is a pressing need for a robust rating scale for ocular myasthenia gravis (OMG). Rating scales for myasthenia gravis (MG) research have a predominant focus on generalised disease. We present results of the first dedicated rating scale for OMG: the ocular myasthenia gravis rating scale (OMGRate). The OMGRate was developed through an international collaboration between neuromuscular and neuro-ophthalmology experts in OMG. It comprises two components: a physician- examination (OMGRate-e) and a patient questionnaire (OMGRate-q).. The OMGRate was prospectively validated in patients attending a neuro-ophthalmology clinic from April 2017 to October 2018. External validity and reliability of OMGRate were evaluated using validated MG rating scales: the Myasthenia Gravis Composite (MGC), the Myasthenia Gravis Quality of Life (MG-QOL), and the ocular component from the Myasthenia Gravis Impairment Index questionnaire (MGII). Two hundred and eleven assessments were completed in 104 patients (67 males, mean age 55 y, range 18-86 y). There was very good external validity of the OMGRate: good correlation between OMGRate-e and MGC (r = 0.64, 95% confidence intervals [CI] 0.54-0.74, p < .0001); excellent correlation between OMGRate-q and MGII (r = 0.85, 95% CI 0.78-0.91, p < .0001) and good correlation between OMGRate and MG-QOL (r = 0.68, 95% CI 0.60-0.77, p < .0001). A higher correlation of OMGRate and MG-QOL compared with MGC and MG-QOL (r = 0.47, 95% CI 0.34-0.59, p < .0001) suggests that OMGRate is better able to capture significant QOL information in patients with OMG. It had excellent reliability with an intraclass correlation coefficient of 0.83 (95% CI 0.67-0.92). Feedback from examiners and patients indicated that the OMGRate was easy to use. In conclusion, OMGRate is an easy-to-use, valid and reliable rating scale for monitoring the severity of OMG.

Evidence of small-fiber neuropathy in neurofibromatosis type 1.

INTRODUCTION: Large-fiber neuropathy is rare in neurofibromatosis type 1, but small-fiber neuropathy has not been studied. METHODS: Patients with neurofibromatosis type 1 underwent nerve conduction studies for large-fiber assessment. Small-fiber tests included quantitative thermal thresholds, laser Doppler flare imaging, intraepidermal nerve fiber density, and corneal nerve fiber length. RESULTS: Of the 52 patients enrolled, 31 (60%) were female and the mean age was 33.0 ± 12.3 years. Four (8%) patients had abnormal nerve conduction studies. Small-fiber tests were frequently abnormal: thermal thresholds in 7 (13%); laser Doppler flare imaging in 10 (19%); intraepidermal nerve fiber density in 11 (22%); and corneal nerve fiber length in 27 (52%). The mean corneal nerve fiber length was below normative level (10.1 ± 2.7 mm/mm3 ). DISCUSSION: Small-fiber neuropathy may be common in neurofibromatosis type 1, and should be investigated in symptomatic patients.

Thymectomy may not be associated with clinical improvement in MuSK myasthenia gravis.

INTRODUCTION: A randomized trial demonstrated benefit from thymectomy in nonthymomatous acetylcholine receptor (AChR)-antibody positive myasthenia gravis (MG). Uncontrolled observational and histologic studies suggest thymectomy may not be efficacious in anti-muscle-specific kinase (MuSK)-MG. METHODS: The therapeutic impact of thymectomy was evaluated from data collected for a multicenter, retrospective blinded review of rituximab in MuSK-MG. RESULTS: Baseline characteristics were similar between thymectomy (n = 26) and nonthymectomy (n = 29) groups, including treatment with rituximab (42% vs. 45%). At last visit, 35% of thymectomy subjects reached the primary endpoint, a Myasthenia Gravis Foundation of America (MGFA) post-intervention status (PIS) score of minimal manifestations (MM) or better, compared with 55% of controls (P = 0.17). After controlling for age at onset of MG, rituximab, prednisone, and intravenous immunoglobulin/plasma exchange treatment, thymectomy was not associated with greater likelihood of favorable clinical outcome (odds ratio = 0.43, 95% confidence interval 0.12-1.53, P = 0.19). DISCUSSION: Thymectomy was not associated with additional clinical improvement in this multicenter cohort of MuSK-MG patients. Muscle Nerve 59:404-410, 2019.

Qualitative, Patient-Centered Assessment of Muscle Cramp Impact and Severity.

BACKGROUND: There is an urgent need for new therapeutic options to treat muscle cramps; however, no patient-reported measures exist that capture the entire cramp experience. We conducted a qualitative study to assess the experience of patients suffering muscle cramps, aiming to understand what factors determine the impact cramps have in patients' lives to guide the development of a patient-centered outcome measure of cramp severity and impact. METHODS: We enrolled patients with cramps due to several etiologies, including motor neuron disease, pregnancy-induced cramps, cirrhosis and hemodialysis, and idiopathic and exercise-induced cramps. Patients participated in semistructured interviews about their experiences with muscle cramps and their responses were recorded and transcribed. Data were analyzed with content analysis using data saturation to determine the sample size. We subsequently developed a conceptual framework of cramp severity and overall cramp impact. RESULTS: Ten patients were interviewed when data saturation was reached. The cramp experience was similar across disease and physiological states known to cause muscle cramps. The main themes that compose the overall cramp impact are cramp characteristics, sleep interference, daytime activities interference, and the effect on mental health. CONCLUSIONS: This framework will be used to develop a patient-reported outcome of cramp severity and impact.

Évaluer qualitativement l'impact et la gravité des crampes musculaires tout en étant axé sur les patients qui en souffrent. Contexte : Il existe un besoin urgent de mettre en œuvre de nouvelles options thérapeutiquespour le soulagementdes crampes musculaires. Cela dit, aucun patient qui en souffre ne semble avoir fait état d'optionstenant compte de la totalité de leurexpérience. À cet égard, nous avons effectué une étude qualitative afin justement de mieux cerner l'expérience de ces patients et de comprendreles facteurs qui déterminentl'impact que les crampes peuvent avoir dans leur vie. Nous voulons du coup orienter l'élaboration d'indicateursaxés sur les patients eux-mêmes, indicateurs visant à mesurer l'impact et la gravité de leurs crampes musculaires. Méthodes : Nous avons recruté des patients atteints de crampes musculaires en raison de plusieurs étiologies, par exemple des pathologies du motoneurone, des crampes liées à une grossesse, des cas de cirrhosenécessitant une hémodialyse, des crampes idiopathiquesou déclenchées par l'exercice, etc. Les patients recrutés ont participé à des entrevues semi-structurées portant sur leur expérience en lien avec des crampes musculaires, leurs réponses étant enregistrées et par la suite transcrites. En plus déterminer la taille de notre échantillon à l'aide de la saturation de données, nous avons ensuite analysé ces dernières au moyen de la méthode d'analyse de contenu. Enfin, nous avons élaboré un cadre conceptuel de la gravité des crampes musculaires et de leur impact général. Résultats : Une fois nos données saturées, dix patients ont été interviewés. Les expériences liées à leurs crampes se sont révélées comparables peu importe les maladies et les états physiologiques. Parmi les principaux aspects caractérisant l'impact général des crampes, mentionnons les suivants : les caractéristiques des crampes, les perturbations du sommeil qu'elles entraînent, leur interférence dans des activités de jour et leurs effets sur la santé mentale. Conclusions : Ce cadre de référence sera utilisé pour élaborer un outil mesurant la gravité et l'impact des crampes musculaires, et ce, en fonction de l'apport des patients eux-mêmes.

Quantitative sonographic assessment of myotonia.

INTRODUCTION: This study explores ultrasound imaging for qualitative and quantitative assessment of myotonia. METHODS: Sixteen patients with myotonia and 16 controls underwent sonographic evaluation of the thenar eminence muscles to assess the relaxation time after muscle percussion. RESULTS: The mean time for complete muscle relaxation in patients with myotonia was longer than that of controls. A cutoff of > 0.9 s for myotonia detection had a sensitivity of 88% and a specificity of 100%. The interrater reliability was moderate for qualitative assessment but was high for quantitative assessment. The relaxation time did not correlate with the number of trinucleotide repeats in patients with myotonic dystrophy. DISCUSSION: Sonographic evaluation for the presence of myotonia is feasible, sensitive, and specific but does not correlate with disease severity in myotonic dystrophy. Muscle Nerve 57: 146-149, 2018.