Neuromuscular Disorders最新文献_第9页

ENMC Themed Workshop announcement ENMC 主题研讨会公告

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-01 DOI: 10.1016/S0960-8966(24)01720-6

引用次数: 0

Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module 未经治疗的 SMA II 和 III 患者 12 个月内的上肢功能变化：使用修订版上肢模块进行的项目级分析

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-01 DOI: 10.1016/j.nmd.2024.08.006

Giorgia Coratti , Matthew Civitello , Annemarie Rohwer , Emilio Albamonte , Jacqueline Montes , Allan M Glanzman , Amy Pasternak , Roberto De Sanctis , Sally Dunaway Young , Tina Duong , Irene Mizzoni , Evelin Milev , Maria Sframeli , Simone Morando , Adele D'Amico , Michela Catteruccia , Noemi Brolatti , Marika Pane , Mariacristina Scoto , Sonia Messina , Eugenio Mercuri

{"title":"Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module","authors":"Giorgia Coratti , Matthew Civitello , Annemarie Rohwer , Emilio Albamonte , Jacqueline Montes , Allan M Glanzman , Amy Pasternak , Roberto De Sanctis , Sally Dunaway Young , Tina Duong , Irene Mizzoni , Evelin Milev , Maria Sframeli , Simone Morando , Adele D'Amico , Michela Catteruccia , Noemi Brolatti , Marika Pane , Mariacristina Scoto , Sonia Messina , Eugenio Mercuri","doi":"10.1016/j.nmd.2024.08.006","DOIUrl":"10.1016/j.nmd.2024.08.006","url":null,"abstract":"<div><div>The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the ‘shift analysis’ to assess the patterns of lost or gained abilities for each item on the RULM in an untreated cohort, stratified by SMA type, age, <em>SMN2</em> copy number, and motor functional status. The analysis was performed on 222 12-month paired assessments from 129 individuals (115 assessment from type II and 107 from type III) who had at least two assessments at yearly intervals. There was a loss of one or more activities in 54% in type II and in 29% type III. A gain of one or more activities was found in 42% type II and in 22% type III. There were concomitant gains and losses in 27% in SMA II and in 9% in SMA III. Our results, measuring the number of abilities that are lost or gained, provide an additional method of detecting changes that can be used for the interpretation of the longitudinal data collected in treated SMA individuals.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"44 ","pages":"Article 104449"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142261214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

26th Meryon Lecture St Anne's College, Oxford, 5th July 2024 FSHD: The long road to DUX4 第 26 届梅里恩讲座牛津大学圣安妮学院，2024 年 7 月 5 日：前列腺增生症：通往 DUX4 的漫漫长路

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-01 DOI: 10.1016/j.nmd.2024.08.007

George W. Padberg

引用次数: 0

WMS General Information WMS 一般信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-01 DOI: 10.1016/S0960-8966(24)01725-5

引用次数: 0

Acute weakness and elevated creatine kinase levels associated with coxsackievirus infection in LAMA2-related muscular dystrophy 与 LAMA2 相关性肌营养不良症患者柯萨奇病毒感染有关的急性乏力和肌酸激酶水平升高。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-10-28 DOI: 10.1016/j.nmd.2024.105237

Wui-Kwan Wong , Denise Warner , Richard Webster

引用次数: 0

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-10-25 DOI: 10.1016/j.nmd.2024.105234

Narges Karimi , Aida Ghasemi , Akram Panahi , Bentolhoda Ziaadini , Shahriar Nafissi

{"title":"CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights","authors":"Narges Karimi , Aida Ghasemi , Akram Panahi , Bentolhoda Ziaadini , Shahriar Nafissi","doi":"10.1016/j.nmd.2024.105234","DOIUrl":"10.1016/j.nmd.2024.105234","url":null,"abstract":"<div><div>Variants in the <em>CHRNE</em> gene can lead to a condition called congenital myasthenic syndrome (CMS), which affects the neuromuscular junction (NMJ). <em>CHRNE</em> mutations are the most common cause of CMS. Seventy-seven patients with a possible diagnosis of CMS were referred to the neuromuscular clinic of Shariati Hospital affiliated with the Tehran University of Medical Sciences. We performed whole-exome sequencing (WES) to determine the underlying defect in a group of individuals with a possible diagnosis of CMS. Clinical features and morphological and molecular data on 33 patients with mutations in <em>CHRNE</em> were described. Age of onset, age at diagnosis, consanguinity, family history, motor milestone delay, ophthalmoparesis, generalized fatigue, dysphagia, neurophysiologic findings, and response to treatment of the patients were assessed. Nineteen <em>CHRNE</em> variants including 10 novel ones were identified. The most common mutations were c.1327del; (p.Glu443LysfsTer64) in four different families and c.1252–1267dup; (p.Cys423SerfsTer38) in three families. Clinical onset was mostly at birth or under one year with bilateral fatigable ptosis, ophthalmoplegia, bulbar weakness, and proximal muscle weakness. All patients were treated with pyridostigmine ± salbutamol, which resulted in improvement of motor function, dysphagia, and breathing.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"46 ","pages":"Article 105234"},"PeriodicalIF":2.7,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 disorders are associated with morphological neuromuscular junction defects 线粒体疾病与神经肌肉接头形态缺陷有关

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-10-25 DOI: 10.1016/j.nmd.2024.105235

Lola E. R. Lessard , Emmanuelle Girard , Nathalie Streichenberger , Philippe Petiot , Cécile Acquaviva , Cécile Pagan , Peter Mulligan , Françoise Bouhour , Laurent Schaeffer , Arnaud Jacquier

{"title":"Mitochondrial disorders are associated with morphological neuromuscular junction defects","authors":"Lola E. R. Lessard , Emmanuelle Girard , Nathalie Streichenberger , Philippe Petiot , Cécile Acquaviva , Cécile Pagan , Peter Mulligan , Françoise Bouhour , Laurent Schaeffer , Arnaud Jacquier","doi":"10.1016/j.nmd.2024.105235","DOIUrl":"10.1016/j.nmd.2024.105235","url":null,"abstract":"<div><div>We aimed to evaluate whether inherited mitochondrial dysfunction is associated with neuromuscular junction remodeling in patients with mitochondrial disorders.</div><div>Muscle biopsies from 15 patients with mitochondrial disorders and 10 control patients were analyzed through immunostaining for various neuromuscular junction components. The patient group, with a mean age of 49.9 years, exhibited various mitochondrial disorders including chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Patients with mitochondrial disorders had a high percentage of remodeled (<em>p</em> <em>=</em> 0.0001), neoformed (<em>p</em> <em>=</em> 0.0049) and dilated (<em>p</em> <em>=</em> 0.016) endplates. There was a trend toward an increased proportion of neuromuscular junctions with terminal Schwann cell extension in these patients (<em>p</em> <em>=</em> 0.052). No significant difference was found in myofiber diameter between the groups. The observed neuromuscular junction defects varied widely across different mitochondrial disorder phenotypes and were present even without accompanying muscle weakness or neuropathy.</div><div>This suggest that mitochondrial disorders are associated with a primary NMJ remodeling independent of muscle structural damage. Pathomechanisms underpinning this remodeling of the neuromuscular junction, as well as clinical factors predictive of this remodeling, remain to be fully characterized.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"45 ","pages":"Article 105235"},"PeriodicalIF":2.7,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Very-late-onset multiple Acyl-coenzyme a dehydrogenase deficiency with elevated GDF-15 and Aldolase: a case report 极晚期多酰基辅酶 a 脱氢酶缺乏症伴 GDF-15 和醛缩酶升高：病例报告。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-10-18 DOI: 10.1016/j.nmd.2024.105213

Rahul Gaini , Gregory Chamberlin , Shih-Hsiu J. Wang , Jonathan Morena

{"title":"Very-late-onset multiple Acyl-coenzyme a dehydrogenase deficiency with elevated GDF-15 and Aldolase: a case report","authors":"Rahul Gaini , Gregory Chamberlin , Shih-Hsiu J. Wang , Jonathan Morena","doi":"10.1016/j.nmd.2024.105213","DOIUrl":"10.1016/j.nmd.2024.105213","url":null,"abstract":"<div><div>A 72-year-old woman on sertraline and levothyroxine (Levoxyl) presented to clinic with progressive proximal > distal and left > right upper and lower extremity weakness. She had length-dependent paresthesias and sensory deficits. Aldolase was elevated but CK was normal. EMG/NCS showed myopathic motor units. Muscle biopsy revealed numerous muscle fibers with markedly increased lipid content. Additional bloodwork showed elevated plasma acylcarnitine species of all chain lengths, concerning for multiple acyl-CoA dehydrogenase deficiency (MADD), along with elevated Growth Differentiation Factor 15 (GDF-15). Metabolic and mitochondrial genetic testing followed by whole exome sequencing was negative. The patient started riboflavin 400 mg daily and improved from requiring a wheelchair to independent ambulation. She was diagnosed with very-late-onset riboflavin-responsive MADD. This case adds to the growing literature on the clinical heterogeneity of VLO-MADD, comments on the potential for non-genetic, pharmacologic triggers like sertraline, and highlights that GDF-15 and aldolase can be elevated with normal CK.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"45 ","pages":"Article 105213"},"PeriodicalIF":2.7,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Paediatric neuromuscular diseases in Africa: access to care 非洲小儿神经肌肉疾病：获得治疗的机会

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-10-14 DOI: 10.1016/j.nmd.2024.105212

Sharika Raga , Giovanni Baranello , Heinz Jungbluth , Jo M. Wilmshurst

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Two novel deep intronic variants cause Duchenne muscular dystrophy by splice-altering mechanism 两种新型深内含子变体通过剪接改变机制导致杜氏肌营养不良症

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-10-10 DOI: 10.1016/j.nmd.2024.104470

Lei Zhao , Chaoping Hu , Shirang Pan , Depeng Wang , Yi Wang , Xihua Li

引用次数: 0