Muscle & Nerve最新文献_第5页

The difference in nerve ultrasound and motor nerve conduction studies between autoimmune nodopathy and chronic inflammatory demyelinating polyneuropathy. 自身免疫性结节病与慢性炎症性脱髓鞘性多发性神经病在神经超声和运动神经传导研究方面的差异。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-28 DOI: 10.1002/mus.28239

Jingwen Niu, Qingyun Ding, Lei Zhang, Nan Hu, Liying Cui, Mingsheng Liu

{"title":"The difference in nerve ultrasound and motor nerve conduction studies between autoimmune nodopathy and chronic inflammatory demyelinating polyneuropathy.","authors":"Jingwen Niu, Qingyun Ding, Lei Zhang, Nan Hu, Liying Cui, Mingsheng Liu","doi":"10.1002/mus.28239","DOIUrl":"https://doi.org/10.1002/mus.28239","url":null,"abstract":"Introduction/aims: Nerve enlargement has been described in autoimmune nodopathy and chronic inflammatory demyelinating polyneuropathy (CIDP). However, comparisons of the distribution of enlargement between autoimmune nodopathy and CIDP have not been well characterized. To fill this gap, we explored differences in the ultrasonographic and electrophysiological features between autoimmune nodopathy and CIDP.Methods: Between March 2015 and June 2023, patients fulfilling diagnostic criteria for CIDP were enrolled; among them, those with positive antibodies against nodal-paranodal cell-adhesion molecules were distinguished as autoimmune nodopathy. Nerve ultrasound and nerve conduction studies (NCS) were performed.Results: Overall, 114 CIDP patients and 13 patients with autoimmune nodopathy were recruited. Cross-sectional areas (CSA) at all sites were larger in patients with CIDP and autoimmune nodopathy than in healthy controls. CSAs at the roots and trunks of the brachial plexus were significantly larger in patients with anti-neurofascin-155 (NF155), anti-contactin-1 (CNTN1), and anti-contactin-associated protein 1 (CASPR1) antibodies than in CIDP patients. The patients with anti-NF186 antibody did not have enlargement in the brachial plexus. NCS showed more frequent probable conduction block at Erb's point in autoimmune nodopathy than in CIDP (61.9% vs. 36.6% for median nerve, 52.4% vs. 39.5% for ulnar nerve). Markedly prolonged distal motor latencies were also present in autoimmune nodopathy.Discussion: Patients with autoimmune nodopathies had distinct distributions of peripheral nerve enlargement revealed by ultrasound, as well as distinct NCS patterns, which were different from CIDP. This suggests the potential utility of nerve ultrasound and NCS to supplement clinical characteristics for distinguishing nodopathies from CIDP.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142109673","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}

引用次数: 0

Role of prazosin in patients with Guillain-Barré syndrome with sympathetic overactivity: A cohort study. 哌唑嗪在伴有交感神经过度活动的格林-巴利综合征患者中的作用：一项队列研究。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-22 DOI: 10.1002/mus.28236

Mritunjai Kumar, Abhishek Guin, Anu Singh, Rajni Singh, Ashutosh Tiwari

{"title":"Role of prazosin in patients with Guillain-Barré syndrome with sympathetic overactivity: A cohort study.","authors":"Mritunjai Kumar, Abhishek Guin, Anu Singh, Rajni Singh, Ashutosh Tiwari","doi":"10.1002/mus.28236","DOIUrl":"https://doi.org/10.1002/mus.28236","url":null,"abstract":"Introduction/aims: In Guillain-Barré syndrome (GBS), patients with dysautonomia demonstrate sympathetic overactivity (SO). This study assessed the role of prazosin (α1-blocker) in the management of SO.Methods: This cohort study was conducted from January 2022 to September 2023. Thirty-two GBS patients with SO received prazosin (2.5-10 mg three times a day) (prazosin group). For comparison, we included historical controls that included 33 GBS patients having SO with similar baseline characteristics, including median age and disability, who did not receive prazosin, from a GBS registry of patients admitted during February 2018-December 2021. The primary endpoint was days to resolution of SO. Secondary endpoints were daily fluctuations in the systolic (SBP) and diastolic blood pressure (DBP), duration of hospital stay, in-hospital mortality, and disability at 3 months.Results: The median ages of both the treatment and the control groups were 36 (IQR 25-49) years and 43 (66.2%) were males. The demographic and clinical parameters were comparable. Prazosin resulted in significantly earlier normalization of SO compared to the control group (median 15 vs. 20 days; p = .01). The mean fluctuations in the SBP and DBP at 15 days were significantly lower in the prazosin group. However, the duration of hospital stay and good recovery at 3 months were comparable. Three patients developed hypotension, while two patients died (ventilator-associated pneumonia) in the prazosin group.Discussion: This study provides new evidence supporting the role of prazosin in SO, and needs randomized trials to confirm our findings.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142036352","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}

引用次数: 0

Safety of risdiplam in spinal muscular atrophy patients after short-term treatment with nusinersen. 短期使用纽西奈森治疗脊髓性肌萎缩症患者后，利斯地平的安全性。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-13 DOI: 10.1002/mus.28228

Yue Yan, Yijie Feng, Liya Jiang, Jianing Jin, Shanshan Mao

{"title":"Safety of risdiplam in spinal muscular atrophy patients after short-term treatment with nusinersen.","authors":"Yue Yan, Yijie Feng, Liya Jiang, Jianing Jin, Shanshan Mao","doi":"10.1002/mus.28228","DOIUrl":"https://doi.org/10.1002/mus.28228","url":null,"abstract":"Introduction/aims: Following the approval of risdiplam, there are more possibilities for disease-modifying therapy (DMT) in children with spinal muscular atrophy (SMA). Non-treatment-naïve subjects with SMA involved in the JEWELFISH study, designed to evaluate the safety and tolerability of risdiplam, were required to undergo a washout period before receiving risdiplam. This study aims to investigate the safety of administering risdiplam in patients within 90 days of receiving treatment with nusinersen.Methods: Data were collected on SMA patients who had undergone treatment with nusinersen, and who then received risdiplam within 90 days of their last dose of nusinersen, including demographic characteristics, information on treatment with nusinersen and risdiplam, adverse events, and laboratory assessments in a follow-up period of 90 days, presented as median (range).Results: A total of 15 children with SMA were reported, including 8 males and 7 females. The median number of doses of previous nusinersen treatment received was 8 (6-17) doses, and the median age at first risdiplam treatment was 4.3 (1.9-11.2) years. Specifically, 8 children received risdiplam 30 days or less after their most recent nusinersen treatment, 2 at 31-60 days after nusinersen, and 5 at 61-89 days post-nusinersen. Adverse events of pyrexia, pneumonia, vomiting and rash were reported in 4 patients.Discussion: Our study showed good safety data on patients who received risdiplam following nusinersen within the washout period of 90 days. This supplements the JEWELFISH study in the era of DMT, providing additional guidance for clinicians, but additional data from other centers is needed.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971485","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}

引用次数: 0

Outcome measures used in peripheral nerve surgery for symptomatic neuroma in upper extremity amputations: A scoping review. 用于治疗上肢截肢症状性神经瘤的周围神经手术的结果测量：范围综述。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-13 DOI: 10.1002/mus.28231

Borum Yang, Rachana Suresh, Jon Nam, Amanda L Mayo, Sander L Hitzig, Alison Wong

{"title":"Outcome measures used in peripheral nerve surgery for symptomatic neuroma in upper extremity amputations: A scoping review.","authors":"Borum Yang, Rachana Suresh, Jon Nam, Amanda L Mayo, Sander L Hitzig, Alison Wong","doi":"10.1002/mus.28231","DOIUrl":"https://doi.org/10.1002/mus.28231","url":null,"abstract":"Novel surgical treatments for painful neuromas are increasingly used, but determining which provides the greatest benefit has been difficult due to the inconsistent use of outcome measures. We mapped the current literature of outcome measures used to evaluate peripheral nerve surgery for the management of symptomatic neuromas in patients who underwent an adult-acquired upper extremity amputation (UEA). Medline, Embase, Cochrane, and CINAHL were searched for primary research written in the English language from inception to February 2023. The search yielded 1137 articles, of which 35 were included for final analysis. Studies varied in their assessment of pain, health-related quality of life (HRQOL), neurotrophic measures, psychological and sensorimotor function, highlighting a consensus on crucial domains but also revealing significant heterogeneity in the use and application of outcome measures among primary studies. Our findings highlight the need to establish common standards that reflect the best evidence and unique needs of the UEA population. This includes developing a core outcome set, utilizing multi-center trials, and maintaining flexibility to adapt to ongoing advancements in patient-reported outcome measures (PROMs) research.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971484","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}

引用次数: 0

Tissue Doppler ultrasound of arm muscles to assess myotonia in myotonic dystrophies: An exploratory study. 用手臂肌肉的组织多普勒超声评估肌张力营养不良症患者的肌张力：一项探索性研究

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-13 DOI: 10.1002/mus.28229

Martin K R Svačina, Alina Sprenger-Svačina, Felix Kohle, Gilbert Wunderlich, Helmar C Lehmann, Christian Schneider

{"title":"Tissue Doppler ultrasound of arm muscles to assess myotonia in myotonic dystrophies: An exploratory study.","authors":"Martin K R Svačina, Alina Sprenger-Svačina, Felix Kohle, Gilbert Wunderlich, Helmar C Lehmann, Christian Schneider","doi":"10.1002/mus.28229","DOIUrl":"https://doi.org/10.1002/mus.28229","url":null,"abstract":"Introduction/aims: Myotonia is a key symptom of myotonic dystrophies (DM), and its quantification is challenging. This exploratory study evaluated the utility of tissue Doppler ultrasound (TDU) to assess myotonia in DM.Methods: Twelve DM patients (seven type-1 DM [DM1] and five type-2 DM [DM2]) and 20 age-matched healthy subjects were included in this cross-sectional study. After measuring cross-sectional areas of the flexor digitorum superficialis (FDS) and extensor digitorum communis (EDC) muscles in a resting state, muscle contraction/relaxation time, time to peak tissue velocity, peak tissue velocity and velocity gradients of these muscles were measured via TDU while performing forced fist unclenching after fist closure. Additionally, grip strength, Medical Research Council Sum score and patient-reported myotonia severity scores were assessed.Results: DM1 and DM2 patients had a lower grip strength than healthy subjects (p = .0001/p = .002). Patient-reported myotonia did not differ between DM1 and DM2 patients. DM1 patients revealed FDS and EDC atrophy compared to DM2 patients and healthy subjects (p = .003/p = .004). TDU revealed prolonged muscle contraction and relaxation times in both DM subtypes, with prolonged time to reach FDS peak relaxation velocity and altered peak FDS relaxation velocity only in DM1 patients (p = .03/p = .003). Peak FDS relaxation velocity correlated inversely with C(C)TG repeat numbers in DM patients. Sensitivity of TDU parameters to detect myotonic dystrophy varied between 50% and 75%, with a specificity of 95%.Discussion: Our exploratory study suggests that TDU could serve as a novel tool to quantify myotonia in DM patients, but larger follow-up studies are warranted to validate its diagnostic accuracy.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971486","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}

引用次数: 0

Usefulness of somatosensory evoked potentials for monitoring the clinical course of patients with chronic inflammatory demyelinating polyradiculoneuropathy. 体感诱发电位对监测慢性炎症性脱髓鞘多发性神经病患者临床病程的作用

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-12 DOI: 10.1002/mus.28234

A Llauradó, M Gratacòs-Viñola, J M Vidal-Taboada, D Sanchez-Tejerina, M Salvadó, J Sotoca, V López-Diego, J Alemañ, J L Restrepo-Vera, E Lainez, J L Seoane, N Raguer, R Juntas-Morales

{"title":"Usefulness of somatosensory evoked potentials for monitoring the clinical course of patients with chronic inflammatory demyelinating polyradiculoneuropathy.","authors":"A Llauradó, M Gratacòs-Viñola, J M Vidal-Taboada, D Sanchez-Tejerina, M Salvadó, J Sotoca, V López-Diego, J Alemañ, J L Restrepo-Vera, E Lainez, J L Seoane, N Raguer, R Juntas-Morales","doi":"10.1002/mus.28234","DOIUrl":"https://doi.org/10.1002/mus.28234","url":null,"abstract":"Introduction/aims: Somatosensory evoked potentials (SSEPs) are described as a supportive tool to diagnose chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); however, there is a lack of studies determining the effectiveness of SSEPs in monitoring the clinical course of individuals with this condition. The aims of this study are to evaluate the utility of SSEPs in monitoring patients with CIDP and to assess their association with clinical outcomes following immunomodulatory therapy.Methods: This was a single-center retrospective observational study that included patients who met European Federation of Neurological Societies and Peripheral Nerve Society criteria for CIDP between 2018 and 2023. SSEPs were performed at diagnosis and during follow-up after the start of immunomodulatory treatment. Fisher's exact test was employed to assess the association between clinical improvement and SSEP improvement.Results: Eighteen patients were included in the study. Ten patients had a typical CIDP pattern and 11 were male. In 17, SSEPs were abnormal prior to the start of immunomodulatory treatment. In patients who showed clinical improvement with immunomodulatory therapy, we observed that 15/17 had partial or complete improvement in SSEPs. Patients who showed no clinical improvement with first-line treatment exhibited worsening SSEPs. There was a significant association between clinical and SSEPs improvement (p = 0.009).Discussion: We observed a positive association between improvement in SSEPs and clinical improvement in patients with CIDP. Our data suggest that SSEPs may be useful for monitoring the clinical course of patients with CIDP, but additional, larger studies are needed.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917177","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}

引用次数: 0

Utility of the Clustering Index method for diagnosing neuromuscular disorders as compared with needle electromyography. 与针式肌电图相比，聚类指数法在诊断神经肌肉疾病方面的实用性。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-12 DOI: 10.1002/mus.28226

Takamichi Kanbayashi, Go Ogawa, Haruo Uesugi, Shunsuke Kobayashi, Erik Stålberg, Masahiro Sonoo

{"title":"Utility of the Clustering Index method for diagnosing neuromuscular disorders as compared with needle electromyography.","authors":"Takamichi Kanbayashi, Go Ogawa, Haruo Uesugi, Shunsuke Kobayashi, Erik Stålberg, Masahiro Sonoo","doi":"10.1002/mus.28226","DOIUrl":"https://doi.org/10.1002/mus.28226","url":null,"abstract":"Introduction/aims: Concentric needle electromyography (CNEMG) is an essential examination for evaluating neuromuscular disorders, although pain is a drawback. Clustering Index (CI) method is a non-invasive quantitative analysis for surface electromyography (SEMG) that evaluates whether the signal area is clustered into the few large motor unit potentials (MUPs) or is evenly distributed. However, the diagnostic yield of the CI method in comparison with CNEMG is not known. In this study, we aimed to compare the sensitivity of the CI method with MUP parameters in CNEMG for diagnosing neurogenic or myogenic disorders.Methods: We retrospectively identified patients for whom both SEMG and CNEMG were performed on the same tibialis anterior (TA) muscle. In CNEMG, seven MUP parameters were evaluated, including size index (SI) and revised size indices for neurogenic (rSIn) and myogenic (rSIm) disorders.Results: Identified were 21 patients with neurogenic and 21 patients with myogenic disorders. Control data were constructed from 30 control subjects. The sensitivities of the CI method for the neurogenic and myogenic groups were 76% and 62%, respectively, which were not significantly different from MUP parameters, except for being significantly higher than those of amplitude and duration for myopathy (24%). Among MUP parameters, the sensitivities of rSIn (62%) and rSIm (57%) for myopathy were significantly higher than those of amplitude and duration. The CI method significantly correlated with the strength of the TA muscle in myopathy.Discussion: The CI method, having comparable diagnostic yields to MUP parameters, is promising as a non-invasive diagnostic measure.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917178","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}

引用次数: 0

Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review. 脊髓性肌萎缩症疾病调整疗法的营养结果：系统综述。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-11 DOI: 10.1002/mus.28224

Katie O'Brien, Kay Nguo, Eppie M Yiu, Ian R Woodcock, Natassja Billich, Zoe E Davidson

{"title":"Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review.","authors":"Katie O'Brien, Kay Nguo, Eppie M Yiu, Ian R Woodcock, Natassja Billich, Zoe E Davidson","doi":"10.1002/mus.28224","DOIUrl":"https://doi.org/10.1002/mus.28224","url":null,"abstract":"The nutritional implications of spinal muscular atrophy (SMA) are profound. Disease modifying therapies (DMT) have improved clinical outcomes. This review describes the impact of DMT on nutrition outcomes. A systematic search strategy was applied across seven databases until May 2023. Eligible studies measured nutrition outcomes in individuals with SMA on DMT (nusinersen, risdiplam or onasemnogene abeparvovec [OA]) compared to untreated comparators. Nutrition outcomes included anthropometry, feeding route, swallowing dysfunction, dietary intake, dietetic intervention, nutritional biochemistry, metabolism, gastrointestinal issues and energy expenditure. Articles retrieved were screened in duplicate, data were extracted and appraised systematically. Sixty three articles from 54 studies were included; 41% (n = 22) investigated nusinersen in pediatric participants with SMA type 1. Anthropometry (n = 18), feeding route (n = 39), and swallowing dysfunction (n = 18) were the most commonly reported outcomes. In combined pediatric and adult cohorts, BMI z-score remained stable post nusinersen therapy. The proportion of children with SMA requiring enteral nutrition was stable post nusinersen therapy. Ability to thrive at age 1.5 years was higher in children treated in early infancy with OA compared to historical controls. Significant heterogeneity existed across study population characteristics and outcome measures. Nusinersen may prevent deterioration in some nutrition outcomes; and OA in early infancy may be associated with improved nutrition outcomes. Timing of DMT initiation is an important consideration for future nutrition research. Studies investigating nutrition as a primary outcome of DMT, using consistent outcome measures are required for nutritional management strategies for this cohort to be appropriately tailored.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917175","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}

引用次数: 0

Peripheral nerve injuries in the performing artist. 表演艺术家的周围神经损伤。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-11 DOI: 10.1002/mus.28232

Berdale Colorado, Breanna Willeford, Jacob Schultz

{"title":"Peripheral nerve injuries in the performing artist.","authors":"Berdale Colorado, Breanna Willeford, Jacob Schultz","doi":"10.1002/mus.28232","DOIUrl":"https://doi.org/10.1002/mus.28232","url":null,"abstract":"Dancers and musicians have unique physical demands that can lead to injury of the peripheral nerves. Specific dance movements and specific instrument positions, combined with countless hours of practice and repetition, create an environment for potential nerve injury. Familiarity with these variables and recognition of the common presentations of neuropathic syndromes are essential in the evaluation of a performing artist with a suspected peripheral nerve injury. Assessment should include an understanding and analysis of their dance style or instrument playing posture, particularly in the position or motion that recreates the symptoms if possible. Practice and performance schedules should also be considered. Diagnosis may require electrodiagnostic testing, imaging, or diagnostic injections. Treatment should be comprehensive and may include modifications in practice schedule, posture/position, and technique in addition to consideration of medications, splints/orthoses, physical therapy, and injections. The instructor/teacher should be involved in the treatment plan if applicable. Complete rest in this population may not be realistic or necessary. Early and accurate diagnosis of nerve injury is important for safe return to dance or instrumental music.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917176","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}

引用次数: 0

Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution. 与肌萎缩性脊髓侧索硬化症有关的线粒体基因组变异及其单倍群分布。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2024-08-09 DOI: 10.1002/mus.28230

Marcelo R S Briones, João H Campos, Renata C Ferreira, Lisa Schneper, Ilda M Santos, Fernando M Antoneli, James R Broach

{"title":"Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution.","authors":"Marcelo R S Briones, João H Campos, Renata C Ferreira, Lisa Schneper, Ilda M Santos, Fernando M Antoneli, James R Broach","doi":"10.1002/mus.28230","DOIUrl":"https://doi.org/10.1002/mus.28230","url":null,"abstract":"Introduction/aims: Amyotrophic lateral sclerosis (ALS) may be familial or sporadic, and twin studies have revealed that even sporadic forms have a significant genetic component. Variants in 55 nuclear genes have been associated with ALS and although mitochondrial dysfunction is observed in ALS, variants in mitochondrial genomes (mitogenomes) have not yet been tested for association with ALS. The aim of this study was to determine whether mitogenome variants are associated with ALS.Methods: We conducted a genome-wide association study (GWAS) in mitogenomes of 1965 ALS patients and 2547 controls.Results: We identified 51 mitogenome variants with p values <10-7, of which 13 had odds ratios (ORs) >1, in genes RNR1, ND1, CO1, CO3, ND5, ND6, and CYB, while 38 variants had OR <1 in genes RNR1, RNA2, ND1, ND2, CO2, ATP8, ATP6, CO3, ND3, ND4, ND5, ND6, and CYB. The frequencies of haplogroups H, U, and L, the most frequent in our ALS data set, were the same in different onset sites (bulbar, limb, spinal, and axial). Also, intra-haplogroup GWAS revealed unique ALS-associated variants in haplogroups L and U.Discussion: Our study shows that mitogenome single nucleotide variants (SNVs) are associated with ALS and suggests that these SNVs could be included in routine genetic testing for ALS and that mitochondrial replacement therapy has the potential to serve as a basis for ALS treatment.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141913325","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}

引用次数: 0