Mariska D Nieuwenhoff, Hoang-Ton Nguyen, Sjoerd P Niehof, Frank J P M Huygen, Ajay Verma, Erica S Klaassen, Malik Bechakra, Wouter J Geelhoed, Joost L M Jongen, Annette C Moll, Alexander F J E Vrancken, Axel Petzold, Geert Jan Groeneveld
Introduction/aims: Corneal confocal microscopy (CCM) detects small nerve fiber loss and correlates with skin biopsy findings in diabetic neuropathy. In chronic idiopathic axonal polyneuropathy (CIAP) this correlation is unknown. Therefore, we compared CCM and skin biopsy in patients with CIAP to healthy controls, patients with painful diabetic neuropathy (PDN) and diabetics without overt neuropathy (DM).
Methods: Participants with CIAP and suspected small fiber neuropathy (n = 15), PDN (n = 16), DM (n = 15), and healthy controls (n = 16) underwent skin biopsy and CCM testing. Inter-center intraclass correlation coefficients (ICC) were calculated for CCM parameters.
Results: Compared with healthy controls, patients with CIAP and PDN had significantly fewer nerve fibers in the skin (IENFD: 5.7 ± 2.3, 3.0 ± 1.8, 3.9 ± 1.5 fibers/mm, all p < .05). Corneal nerve parameters in CIAP (fiber density 23.8 ± 4.9 no./mm2, branch density 16.0 ± 8.8 no./mm2, fiber length 13.1 ± 2.6 mm/mm2) were not different from healthy controls (24.0 ± 6.8 no./mm2, 22.1 ± 9.7 no./mm2, 13.5 ± 3.5 mm/mm2, all p > .05). In patients with PDN, corneal nerve fiber density (17.8 ± 5.7 no./mm2) and fiber length (10.5 ± 2.7 mm/mm2) were reduced compared with healthy controls (p < .05). CCM results did not correlate with IENFD in CIAP patients. Inter-center ICC was 0.77 for fiber density and 0.87 for fiber length.
Discussion: In contrast to patients with PDN, corneal nerve parameters were not decreased in patients with CIAP and small nerve fiber damage. Therefore, CCM is not a good biomarker for small nerve fiber loss in CIAP patients.
{"title":"Differences in corneal nerve fiber density and fiber length in patients with painful chronic idiopathic axonal polyneuropathy and diabetic polyneuropathy.","authors":"Mariska D Nieuwenhoff, Hoang-Ton Nguyen, Sjoerd P Niehof, Frank J P M Huygen, Ajay Verma, Erica S Klaassen, Malik Bechakra, Wouter J Geelhoed, Joost L M Jongen, Annette C Moll, Alexander F J E Vrancken, Axel Petzold, Geert Jan Groeneveld","doi":"10.1002/mus.28213","DOIUrl":"https://doi.org/10.1002/mus.28213","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Corneal confocal microscopy (CCM) detects small nerve fiber loss and correlates with skin biopsy findings in diabetic neuropathy. In chronic idiopathic axonal polyneuropathy (CIAP) this correlation is unknown. Therefore, we compared CCM and skin biopsy in patients with CIAP to healthy controls, patients with painful diabetic neuropathy (PDN) and diabetics without overt neuropathy (DM).</p><p><strong>Methods: </strong>Participants with CIAP and suspected small fiber neuropathy (n = 15), PDN (n = 16), DM (n = 15), and healthy controls (n = 16) underwent skin biopsy and CCM testing. Inter-center intraclass correlation coefficients (ICC) were calculated for CCM parameters.</p><p><strong>Results: </strong>Compared with healthy controls, patients with CIAP and PDN had significantly fewer nerve fibers in the skin (IENFD: 5.7 ± 2.3, 3.0 ± 1.8, 3.9 ± 1.5 fibers/mm, all p < .05). Corneal nerve parameters in CIAP (fiber density 23.8 ± 4.9 no./mm<sup>2</sup>, branch density 16.0 ± 8.8 no./mm<sup>2</sup>, fiber length 13.1 ± 2.6 mm/mm<sup>2</sup>) were not different from healthy controls (24.0 ± 6.8 no./mm<sup>2</sup>, 22.1 ± 9.7 no./mm<sup>2</sup>, 13.5 ± 3.5 mm/mm<sup>2</sup>, all p > .05). In patients with PDN, corneal nerve fiber density (17.8 ± 5.7 no./mm<sup>2</sup>) and fiber length (10.5 ± 2.7 mm/mm<sup>2</sup>) were reduced compared with healthy controls (p < .05). CCM results did not correlate with IENFD in CIAP patients. Inter-center ICC was 0.77 for fiber density and 0.87 for fiber length.</p><p><strong>Discussion: </strong>In contrast to patients with PDN, corneal nerve parameters were not decreased in patients with CIAP and small nerve fiber damage. Therefore, CCM is not a good biomarker for small nerve fiber loss in CIAP patients.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Benjamin Beland, Tefani Perera, Angela Lee, Jamie Greenfield, Lawrence Korngut, Gordon Jewett
Introduction/aims: Females with generalized myasthenia gravis (gMG) report lower quality of life (QoL) and have more severe disease than males. Sex differences in disease characteristics exist, however whether there are sex differences in the treatment of gMG that may contribute to QoL disparities is unknown. Our objective is to determine whether there are sex differences in the treatment of gMG.
Methods: We performed a single-center retrospective study of people diagnosed with gMG at the University of Calgary between 1997 and 2021. Primary outcome was proportion starting treatment and secondary outcome was time from diagnosis to treatment initiation. Treatments included pyridostigmine, prednisone, steroid sparing therapies (azathioprine, mycophenolate mofetil [MMF], methotrexate [MTX], or tacrolimus), intravenous immunoglobulin (IVIg), plasmapheresis, rituximab, eculizumab, cyclosporine, stem cell transplantation, and thymectomy. Multivariable logistic and Cox proportional hazards regression models were used to examine treatment associations with sex, adjusted for time from onset to diagnosis, age at diagnosis, presence of thymoma, and antibody status.
Results: A total of 179 people with gMG were included (41.9% female). Odds of starting treatment were not statistically associated with sex after adjustment for confounders and correction for multiple testing. Results of the secondary analysis using time to treatment initiation as the outcome were similar.
Discussion: We found no sex differences in odds of starting treatment or time to treatment initiation that might explain previously observed sex-based differences in QoL. Future work should capture physician and patient treatment preferences that may influence disease management.
导言/目的:与男性相比,患有全身性肌无力症(gMG)的女性生活质量(QoL)更低,病情更严重。疾病特征存在性别差异,但在治疗重症肌无力方面是否存在性别差异,从而导致生活质量的差异,目前尚不清楚。我们的目的是确定在治疗麦角风病时是否存在性别差异:我们对卡尔加里大学在 1997 年至 2021 年期间确诊的戈麦斯扭转肌萎缩症患者进行了一项单中心回顾性研究。主要结果是开始治疗的比例,次要结果是从诊断到开始治疗的时间。治疗方法包括吡啶斯的明、泼尼松、类固醇稀释疗法(硫唑嘌呤、霉酚酸酯[MMF]、甲氨蝶呤[MTX]或他克莫司)、静脉注射免疫球蛋白(IVIg)、血浆置换术、利妥昔单抗、依库珠单抗、环孢素、干细胞移植和胸腺切除术。采用多变量逻辑回归模型和考克斯比例危险回归模型来研究治疗与性别的关系,并对从发病到确诊的时间、确诊时的年龄、是否存在胸腺瘤以及抗体状态进行了调整:共纳入了179名戈麦斯过敏症患者(41.9%为女性)。在对混杂因素进行调整和多重检验校正后,开始治疗的几率与性别无统计学关联。以开始治疗的时间作为结果的二次分析结果与此相似:讨论:我们没有发现开始治疗的几率或开始治疗的时间存在性别差异,这可能解释了之前观察到的 QoL 性别差异。未来的工作应该捕捉可能影响疾病管理的医生和患者的治疗偏好。
{"title":"No sex-based differences in odds of starting or time to treatment of generalized myasthenia gravis: A single center cohort study.","authors":"Benjamin Beland, Tefani Perera, Angela Lee, Jamie Greenfield, Lawrence Korngut, Gordon Jewett","doi":"10.1002/mus.28210","DOIUrl":"https://doi.org/10.1002/mus.28210","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Females with generalized myasthenia gravis (gMG) report lower quality of life (QoL) and have more severe disease than males. Sex differences in disease characteristics exist, however whether there are sex differences in the treatment of gMG that may contribute to QoL disparities is unknown. Our objective is to determine whether there are sex differences in the treatment of gMG.</p><p><strong>Methods: </strong>We performed a single-center retrospective study of people diagnosed with gMG at the University of Calgary between 1997 and 2021. Primary outcome was proportion starting treatment and secondary outcome was time from diagnosis to treatment initiation. Treatments included pyridostigmine, prednisone, steroid sparing therapies (azathioprine, mycophenolate mofetil [MMF], methotrexate [MTX], or tacrolimus), intravenous immunoglobulin (IVIg), plasmapheresis, rituximab, eculizumab, cyclosporine, stem cell transplantation, and thymectomy. Multivariable logistic and Cox proportional hazards regression models were used to examine treatment associations with sex, adjusted for time from onset to diagnosis, age at diagnosis, presence of thymoma, and antibody status.</p><p><strong>Results: </strong>A total of 179 people with gMG were included (41.9% female). Odds of starting treatment were not statistically associated with sex after adjustment for confounders and correction for multiple testing. Results of the secondary analysis using time to treatment initiation as the outcome were similar.</p><p><strong>Discussion: </strong>We found no sex differences in odds of starting treatment or time to treatment initiation that might explain previously observed sex-based differences in QoL. Future work should capture physician and patient treatment preferences that may influence disease management.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction/aims: Severe spinal deformities and previous spinal orthopedic instrumentation may result in substantial technical challenges for nusinersen delivery through lumbar puncture in patients with spinal muscular atrophy (SMA). The aim of this paper was to review our experience with ultrasound-guided cervical puncture as an alternative approach for the intrathecal administration of nusinersen.
Methods: This was a retrospective medical record review of transverse interlaminar ultrasound-guided C1-C2 puncture for nusinersen delivery in SMA patients. The details of puncture, complications, and success rate of the procedure were summarized.
Results: There were four patients who received a total of 13 cervical punctures for nusinersen delivery. All procedures were technically successful with no major complications. Full doses of nusinersen were delivered intrathecally.
Discussion: Transverse interlaminar ultrasound-guided C1-C2 puncture is an alternative approach for administering nusinersen if lumbar puncture fails. The success of the technique requires a thorough preprocedural evaluation of cervical spine imaging, sound knowledge of the cervical sonoanatomy and careful manipulation of the needle.
{"title":"Transverse interlaminar ultrasound-guided C1-C2 puncture for the intrathecal administration of nusinersen in patients with spinal muscular atrophy.","authors":"Qing Yuan, Xulei Cui, Jiao Zhang, Yi Dai, Feng Feng, Yuguang Huang, Shuyang Zhang","doi":"10.1002/mus.28212","DOIUrl":"https://doi.org/10.1002/mus.28212","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Severe spinal deformities and previous spinal orthopedic instrumentation may result in substantial technical challenges for nusinersen delivery through lumbar puncture in patients with spinal muscular atrophy (SMA). The aim of this paper was to review our experience with ultrasound-guided cervical puncture as an alternative approach for the intrathecal administration of nusinersen.</p><p><strong>Methods: </strong>This was a retrospective medical record review of transverse interlaminar ultrasound-guided C1-C2 puncture for nusinersen delivery in SMA patients. The details of puncture, complications, and success rate of the procedure were summarized.</p><p><strong>Results: </strong>There were four patients who received a total of 13 cervical punctures for nusinersen delivery. All procedures were technically successful with no major complications. Full doses of nusinersen were delivered intrathecally.</p><p><strong>Discussion: </strong>Transverse interlaminar ultrasound-guided C1-C2 puncture is an alternative approach for administering nusinersen if lumbar puncture fails. The success of the technique requires a thorough preprocedural evaluation of cervical spine imaging, sound knowledge of the cervical sonoanatomy and careful manipulation of the needle.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction/aims: Amyotrophic lateral sclerosis (ALS) exhibits selective muscle weakness. The weak shoulder and arm sparing signs, assessed by a single experienced neurologist, have been reported to be superior to previous signs in sensitivity and specificity. However, it is unknown whether the same results are observed when assessed by multiple neurologists.
Methods: Subjects were retrospectively identified from our department's inpatient database from 2014 to 2023. Medical Research Council (MRC) scores of the deltoid (Del), biceps brachii (BB), triceps brachii (TB), and first dorsal interosseous (FDI) muscles were evaluated. The weak shoulder sign was defined as positive when Del was weaker than BB and TB. The arm sparing sign was defined as positive when both Del and FDI were weaker than BB and TB. Sensitivity was analyzed in all ALS patients and in subgroups based on the region of symptom onset, presence or absence of upper motor neuron (UMN) signs, and the Japanese ALS Severity Classification.
Results: Seventy-one patients with ALS were identified. Eight neurologists and three neurology residents evaluated each patient's MRC scores. The weak shoulder and arm sparing signs were observed in 72% and 48% of patients, respectively, with no significant difference in sensitivity across patient subgroups.
Discussion: The weak shoulder and arm sparing signs showed high and moderate sensitivity, respectively, consistent with a previous report, even when evaluated by multiple examiners. This expands the clinical utility and increases the reliability of these signs, potentially contributing to accurate ALS diagnosis when combined with other clinical features and objective assessments.
导言/目的:肌萎缩侧索硬化症(ALS)表现为选择性肌无力。据报道,由一名经验丰富的神经科医生评估的肩臂无力体征在敏感性和特异性方面优于以往的体征。然而,由多名神经科医生进行评估是否能观察到相同的结果,目前尚不得而知:方法:从我科 2014 年至 2023 年的住院患者数据库中回顾性地确定受试者。对三角肌(Del)、肱二头肌(BB)、肱三头肌(TB)和第一背侧骨间肌(FDI)的医学研究委员会(MRC)评分进行了评估。当 Del 的力量弱于 BB 和 TB 时,肩部无力征被定义为阳性。当 Del 和 FDI 的力量均弱于 BB 和 TB 时,手臂疏松征被定义为阳性。分析了所有 ALS 患者的灵敏度,以及根据症状发作区域、有无上运动神经元(UMN)体征和日本 ALS 严重程度分类对亚组患者的灵敏度:共发现 71 名 ALS 患者。八位神经科医生和三位神经科住院医生对每位患者的 MRC 评分进行了评估。分别有 72% 和 48% 的患者观察到了肩弱和臂展体征,不同亚组患者的敏感性无显著差异:讨论:肩弱体征和手臂疏松体征分别显示出较高和中等的灵敏度,这与之前的报告一致,即使由多名检查人员进行评估也是如此。这扩大了这些体征的临床实用性并提高了其可靠性,当与其他临床特征和客观评估相结合时,可能有助于准确诊断 ALS。
{"title":"Evaluation of the applicability of weak shoulder and arm sparing signs in amyotrophic lateral sclerosis by multiple neurologists and neurology residents: A single-center study.","authors":"Yui Sanpei, Keita Yasuda, Yoshiko Takahashi, Akira Hanazono, Masashiro Sugawara, Katsunori Iijima","doi":"10.1002/mus.28216","DOIUrl":"https://doi.org/10.1002/mus.28216","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Amyotrophic lateral sclerosis (ALS) exhibits selective muscle weakness. The weak shoulder and arm sparing signs, assessed by a single experienced neurologist, have been reported to be superior to previous signs in sensitivity and specificity. However, it is unknown whether the same results are observed when assessed by multiple neurologists.</p><p><strong>Methods: </strong>Subjects were retrospectively identified from our department's inpatient database from 2014 to 2023. Medical Research Council (MRC) scores of the deltoid (Del), biceps brachii (BB), triceps brachii (TB), and first dorsal interosseous (FDI) muscles were evaluated. The weak shoulder sign was defined as positive when Del was weaker than BB and TB. The arm sparing sign was defined as positive when both Del and FDI were weaker than BB and TB. Sensitivity was analyzed in all ALS patients and in subgroups based on the region of symptom onset, presence or absence of upper motor neuron (UMN) signs, and the Japanese ALS Severity Classification.</p><p><strong>Results: </strong>Seventy-one patients with ALS were identified. Eight neurologists and three neurology residents evaluated each patient's MRC scores. The weak shoulder and arm sparing signs were observed in 72% and 48% of patients, respectively, with no significant difference in sensitivity across patient subgroups.</p><p><strong>Discussion: </strong>The weak shoulder and arm sparing signs showed high and moderate sensitivity, respectively, consistent with a previous report, even when evaluated by multiple examiners. This expands the clinical utility and increases the reliability of these signs, potentially contributing to accurate ALS diagnosis when combined with other clinical features and objective assessments.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141752156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kristen Gambardella, Cody Ashy, Dane Daley, Evert Eriksson, Matthew Sherrier
Introduction/aims: Intercostal nerve injury can occur after rib fractures, resulting in denervation of the abdominal musculature. Loss of innervation to the rectus abdominis and intercostal muscles can cause pain, atrophy, and eventual eventration, which may be an underrecognized and thus undertreated complication of rib fractures. We investigated the clinical utility of intercostal nerve electrodiagnostic testing following rib fractures to diagnose and localize nerve injury at levels T7 and below.
Methods: Five patients with displaced bicortical rib fractures involving the 7th-11th ribs and clinical eventration of the ipsilateral abdominal wall underwent intercostal nerve conduction studies (NCS) and needle electromyography (EMG) on the affected side. EMG of the rectus abdominis and intercostal muscles was performed with ultrasound guidance, and ultrasound measurements of rectus abdominis thickness were obtained to assess for atrophy.
Results: Average patient age was 59.4 years and average body mass index (BMI) was 31.5 kg/m2. Intercostal NCS and EMG were able to reliably diagnose and localize intercostal nerve damage after rib fractures. Ultrasound demonstrated an average rectus abdominis transverse cross-sectional thickness of 0.534 cm on the affected side, compared with 1.024 cm on the non-affected side.
Discussion: Intercostal electrodiagnostic studies can diagnose and localize intercostal nerve damage after displaced rib fractures. Musculoskeletal ultrasound can be used to diagnose and quantify rectus abdominis atrophy and to accurately and safely guide needle EMG to the intercostal and rectus abdominis muscles.
{"title":"Intercostal nerve electrodiagnostic testing in rib fractures.","authors":"Kristen Gambardella, Cody Ashy, Dane Daley, Evert Eriksson, Matthew Sherrier","doi":"10.1002/mus.28211","DOIUrl":"https://doi.org/10.1002/mus.28211","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Intercostal nerve injury can occur after rib fractures, resulting in denervation of the abdominal musculature. Loss of innervation to the rectus abdominis and intercostal muscles can cause pain, atrophy, and eventual eventration, which may be an underrecognized and thus undertreated complication of rib fractures. We investigated the clinical utility of intercostal nerve electrodiagnostic testing following rib fractures to diagnose and localize nerve injury at levels T7 and below.</p><p><strong>Methods: </strong>Five patients with displaced bicortical rib fractures involving the 7th-11th ribs and clinical eventration of the ipsilateral abdominal wall underwent intercostal nerve conduction studies (NCS) and needle electromyography (EMG) on the affected side. EMG of the rectus abdominis and intercostal muscles was performed with ultrasound guidance, and ultrasound measurements of rectus abdominis thickness were obtained to assess for atrophy.</p><p><strong>Results: </strong>Average patient age was 59.4 years and average body mass index (BMI) was 31.5 kg/m<sup>2</sup>. Intercostal NCS and EMG were able to reliably diagnose and localize intercostal nerve damage after rib fractures. Ultrasound demonstrated an average rectus abdominis transverse cross-sectional thickness of 0.534 cm on the affected side, compared with 1.024 cm on the non-affected side.</p><p><strong>Discussion: </strong>Intercostal electrodiagnostic studies can diagnose and localize intercostal nerve damage after displaced rib fractures. Musculoskeletal ultrasound can be used to diagnose and quantify rectus abdominis atrophy and to accurately and safely guide needle EMG to the intercostal and rectus abdominis muscles.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141752171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexander De La Rosa-Cabral, Christopher Bonilla-Durango, Anelys Torres-Rivera, Ana Cintrón-Rodríguez
{"title":"Phantom radiculopathy: An electrodiagnostic challenge.","authors":"Alexander De La Rosa-Cabral, Christopher Bonilla-Durango, Anelys Torres-Rivera, Ana Cintrón-Rodríguez","doi":"10.1002/mus.28217","DOIUrl":"https://doi.org/10.1002/mus.28217","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141752172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction/aims: Ryanodine receptor 1 (RYR1)-related myopathies associated with variants in the RYR1 gene present with a wide range of symptoms and severity. Two of the milder phenotypes associated with dominant pathogenic variants in RYR1 are rhabdomyolysis and myalgia. Only a few studies have investigated the muscle function and structure of individuals with RYR1-related rhabdomyolysis/myalgia objectively, showing inconsistent results. This study aimed to describe structural changes and contractility of muscles in individuals with RYR1-related rhabdomyolysis/myalgia.
Methods: We investigated 15 individuals with dominant variants in the RYR1-gene and compared them with 15 age-, sex-, and body mass index (BMI)-matched controls using MRI, stationary isokinetic dynamometry, and comprehensive clinical evaluation.
Results: No significant differences were found between individuals with RYR1-related rhabdomyolysis/myalgia and healthy controls in peak torque, fat fraction, cross-sectional area, contractile cross-sectional area, or contractility (p > .05) in muscles of the lower back (MRI data only), thigh, or calf. On clinical examination, three individuals exhibited weakness in hip or back extension on the Medical Research Council (MRC) test and eight had muscle hypertrophy. Individuals with weakness were not hypertrophic.
Discussion: Most individuals with RYR1-related rhabdomyolysis/myalgia have close to normal strength, and normal fat fraction and contractility of muscles, and therefore constitute a mild phenotype of RYR1-related myopathies.
{"title":"Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1-related rhabdomyolysis or myalgia.","authors":"Zhe Lyu, Tuva Åsatun Solheim, Nanna Scharff Poulsen, Anne-Sofie Vibæk Eisum, Gry Hatting Beha, Freja Fornander, Annarita Ghosh Andersen, Nanna Witting, John Vissing","doi":"10.1002/mus.28219","DOIUrl":"https://doi.org/10.1002/mus.28219","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Ryanodine receptor 1 (RYR1)-related myopathies associated with variants in the RYR1 gene present with a wide range of symptoms and severity. Two of the milder phenotypes associated with dominant pathogenic variants in RYR1 are rhabdomyolysis and myalgia. Only a few studies have investigated the muscle function and structure of individuals with RYR1-related rhabdomyolysis/myalgia objectively, showing inconsistent results. This study aimed to describe structural changes and contractility of muscles in individuals with RYR1-related rhabdomyolysis/myalgia.</p><p><strong>Methods: </strong>We investigated 15 individuals with dominant variants in the RYR1-gene and compared them with 15 age-, sex-, and body mass index (BMI)-matched controls using MRI, stationary isokinetic dynamometry, and comprehensive clinical evaluation.</p><p><strong>Results: </strong>No significant differences were found between individuals with RYR1-related rhabdomyolysis/myalgia and healthy controls in peak torque, fat fraction, cross-sectional area, contractile cross-sectional area, or contractility (p > .05) in muscles of the lower back (MRI data only), thigh, or calf. On clinical examination, three individuals exhibited weakness in hip or back extension on the Medical Research Council (MRC) test and eight had muscle hypertrophy. Individuals with weakness were not hypertrophic.</p><p><strong>Discussion: </strong>Most individuals with RYR1-related rhabdomyolysis/myalgia have close to normal strength, and normal fat fraction and contractility of muscles, and therefore constitute a mild phenotype of RYR1-related myopathies.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141752173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction/aims: Oculopharyngodistal myopathy type 4 (OPDM4) arises from a CGG repeat expansion in the 5' UTR of the RILPL1 gene. Reported cases of OPDM4 have been limited. The aim of this study was to investigate the clinical and myopathological characteristics of OPDM4 patients with advanced disease.
Methods: We assessed a total of 8 affected and 12 unaffected individuals in an OPDM4 family with autosomal dominant inheritance. Muscle biopsy tissue from the proband underwent histological, enzyme histochemical, and immunohistochemical stains, and electron microscopy analysis. Whole exome sequencing and repeat primer PCR (RP-PCR) were conducted to investigate underlying variants.
Results: OPDM4 patients displayed a progressive disease course. Most experienced lower limb weakness and diminished walking ability in their 20s and 30s, followed by ptosis, ophthalmoplegia, swallowing difficulties, and dysarthria in their 30s to 50s, By their 50s to 70s, they became non-ambulatory. Muscle magnetic resonance imaging (MRI) of the proband in advanced disease revealed severe fatty infiltration of pelvic girdle and lower limb muscles. Biopsied muscle tissue exhibited advanced changes typified by adipose connective tissue replacement and the presence of multiple eosinophilic and p62-positive intranuclear inclusions. Immunopositivity for the intranuclear inclusions was observed with anti-glycine antibody and laboratory-made polyA-R1 antibody. RP-PCR unveiled an abnormal CGG repeat expansion in the 5' UTR of the RILPL1 gene.
Discussion: The clinical and radiological features in this family broaden the phenotypic spectrum of OPDM4. The presence of intranuclear inclusions in the proliferative adipose connective tissues of muscle biopsy specimens holds diagnostic significance for OPDM4 in advanced disease.
{"title":"Clinical and pathological characteristics of OPDM4 patients in advanced disease.","authors":"Haixia Tang, Ying Xiong, Kaiyan Jiang, Yu Shen, Yanyan Yu, Pengcheng Huang, Min Zhu, Xiaobing Li, Yilei Zheng, Meihong Zhou, Jiaxi Yu, Jianwen Deng, Zhaoxia Wang, Daojun Hong, Yusen Qiu, Dandan Tan","doi":"10.1002/mus.28200","DOIUrl":"https://doi.org/10.1002/mus.28200","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Oculopharyngodistal myopathy type 4 (OPDM4) arises from a CGG repeat expansion in the 5' UTR of the RILPL1 gene. Reported cases of OPDM4 have been limited. The aim of this study was to investigate the clinical and myopathological characteristics of OPDM4 patients with advanced disease.</p><p><strong>Methods: </strong>We assessed a total of 8 affected and 12 unaffected individuals in an OPDM4 family with autosomal dominant inheritance. Muscle biopsy tissue from the proband underwent histological, enzyme histochemical, and immunohistochemical stains, and electron microscopy analysis. Whole exome sequencing and repeat primer PCR (RP-PCR) were conducted to investigate underlying variants.</p><p><strong>Results: </strong>OPDM4 patients displayed a progressive disease course. Most experienced lower limb weakness and diminished walking ability in their 20s and 30s, followed by ptosis, ophthalmoplegia, swallowing difficulties, and dysarthria in their 30s to 50s, By their 50s to 70s, they became non-ambulatory. Muscle magnetic resonance imaging (MRI) of the proband in advanced disease revealed severe fatty infiltration of pelvic girdle and lower limb muscles. Biopsied muscle tissue exhibited advanced changes typified by adipose connective tissue replacement and the presence of multiple eosinophilic and p62-positive intranuclear inclusions. Immunopositivity for the intranuclear inclusions was observed with anti-glycine antibody and laboratory-made polyA-R1 antibody. RP-PCR unveiled an abnormal CGG repeat expansion in the 5' UTR of the RILPL1 gene.</p><p><strong>Discussion: </strong>The clinical and radiological features in this family broaden the phenotypic spectrum of OPDM4. The presence of intranuclear inclusions in the proliferative adipose connective tissues of muscle biopsy specimens holds diagnostic significance for OPDM4 in advanced disease.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141752155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Giuseppe Cosentino, Paolo Prunetti, Giulia Tammam, Chiara Zaffina, Matteo Gastaldi, Cristina Tassorelli, Enrico Alfonsi, Massimiliano Todisco
Introduction/aims: There is a lack of studies comparing the accuracy of neuromuscular jitter analysis during voluntary activation (v-jitter study) versus axonal stimulation (s-jitter study). The study aimed to compare these two techniques in the same population of patients with suspected ocular myasthenia gravis (OMG).
Methods: Fourteen control subjects (mean age: 55.5 ± 15.2 years) and 34 patients with suspected OMG (mean age: 59 ± 13.9 years) were prospectively evaluated. Twenty spike pairs and 30 individual spikes were analyzed during v-jitter and s-jitter study, respectively. Two different criteria for abnormal individual jitter values were evaluated: ≥ or > than 10% values exceeding the upper normal limit.
Results: OMG was diagnosed in 19 patients based on clinical and laboratory findings, without considering jitter measurements. In most patients, v-jitter and s-jitter analyses provided comparable results. The maximum sensitivity (89%) was achieved with s-jitter study using the ≥10% criterion, while the maximum specificity (93%) was found with v-jitter study using the >10% criterion.
Discussion: Both v-jitter and s-jitter studies showed good to very good accuracy for the diagnosis of OMG, in the absence of any statistically significant difference. Therefore, the patient's cooperation level and examiner's experience should guide the choice of performing v-jitter or s-jitter analysis in patients with suspected OMG.
引言/目的:目前缺乏对自主激活时神经肌肉抖动分析(v-抖动研究)与轴突刺激时神经肌肉抖动分析(s-抖动研究)的准确性进行比较的研究。本研究的目的是在疑似眼肌型重症肌无力(OMG)患者的同一人群中比较这两种技术:对 14 名对照组受试者(平均年龄:55.5 ± 15.2 岁)和 34 名疑似 OMG 患者(平均年龄:59 ± 13.9 岁)进行了前瞻性评估。在 v 抖动和 s 抖动研究中分别分析了 20 对尖峰和 30 个单个尖峰。对单个抖动值异常的两种不同标准进行了评估:超出正常上限的值≥或>10%:结果:19 名患者根据临床和实验室检查结果被诊断为 OMG,而未考虑抖动测量值。在大多数患者中,v 抖动和 s 抖动分析的结果相当。使用≥10%的标准进行s-抖动研究可获得最高灵敏度(89%),而使用>10%的标准进行v-抖动研究可获得最高特异性(93%):讨论:v-抖动和 s-抖动研究对 OMG 诊断的准确性都很好,甚至非常好,没有任何统计学上的显著差异。因此,在对疑似 OMG 患者进行 v 型抖动或 s 型抖动分析时,应根据患者的合作程度和检查者的经验进行选择。
{"title":"Diagnostic accuracy of voluntary and stimulated neuromuscular jitter studies in ocular myasthenia gravis.","authors":"Giuseppe Cosentino, Paolo Prunetti, Giulia Tammam, Chiara Zaffina, Matteo Gastaldi, Cristina Tassorelli, Enrico Alfonsi, Massimiliano Todisco","doi":"10.1002/mus.28202","DOIUrl":"https://doi.org/10.1002/mus.28202","url":null,"abstract":"<p><strong>Introduction/aims: </strong>There is a lack of studies comparing the accuracy of neuromuscular jitter analysis during voluntary activation (v-jitter study) versus axonal stimulation (s-jitter study). The study aimed to compare these two techniques in the same population of patients with suspected ocular myasthenia gravis (OMG).</p><p><strong>Methods: </strong>Fourteen control subjects (mean age: 55.5 ± 15.2 years) and 34 patients with suspected OMG (mean age: 59 ± 13.9 years) were prospectively evaluated. Twenty spike pairs and 30 individual spikes were analyzed during v-jitter and s-jitter study, respectively. Two different criteria for abnormal individual jitter values were evaluated: ≥ or > than 10% values exceeding the upper normal limit.</p><p><strong>Results: </strong>OMG was diagnosed in 19 patients based on clinical and laboratory findings, without considering jitter measurements. In most patients, v-jitter and s-jitter analyses provided comparable results. The maximum sensitivity (89%) was achieved with s-jitter study using the ≥10% criterion, while the maximum specificity (93%) was found with v-jitter study using the >10% criterion.</p><p><strong>Discussion: </strong>Both v-jitter and s-jitter studies showed good to very good accuracy for the diagnosis of OMG, in the absence of any statistically significant difference. Therefore, the patient's cooperation level and examiner's experience should guide the choice of performing v-jitter or s-jitter analysis in patients with suspected OMG.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141600776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}