Journal of Clinical Neuromuscular Disease最新文献

What Is in the Myopathy Literature? 什么是肌病文献？

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000559

Michael Isfort, David Lacomis

引用次数: 0

Progressive Myopathy and Respiratory Failure in a 7-Year-Old Boy With m.3251A>G MT-TL1 Mutation. 7岁男童m.3251A>G MT-TL1突变的进行性肌病和呼吸衰竭

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000547

Daria Hoang, Alan Pestronk, Jafar Kafaie

{"title":"Progressive Myopathy and Respiratory Failure in a 7-Year-Old Boy With m.3251A>G MT-TL1 Mutation.","authors":"Daria Hoang, Alan Pestronk, Jafar Kafaie","doi":"10.1097/CND.0000000000000547","DOIUrl":"10.1097/CND.0000000000000547","url":null,"abstract":"Abstract: We report a pediatric case of severe isolated mitochondrial myopathy because of the rare m.3251A>G variant of the MT-TL1 gene. A 7-year-old boy presented to the hospital with acute-on-chronic weakness and respiratory insufficiency. Initial laboratory tests were notable for elevated lactate, aldolase, and lactate dehydrogenase. Despite a negative autoimmune panel, he was presumed to have myositis and treated with steroids and intravenous immunoglobulin. He continued to deteriorate, eventually requiring intubation and ventilation. Muscle biopsy revealed numerous ragged red fibers, abnormal intracellular lipid droplets with no lymphocytic inflammation, and increased succinate dehydrogenase reactivity, reflecting mitochondrial proliferation in many fibers. Steroids were discontinued, and he was started on a mitochondrial cocktail of cofactors with clinical improvement. Genetic testing identified the m.3251A>G variant, confirming primary mitochondrial disorder. This case expands the known phenotype of the m.3251A>G mutation. We also discuss clinical and histopathological differences between mitochondrial and inflammatory myopathies.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 3","pages":"89-95"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hereditary Myopathy With Early Respiratory Failure: A Case Report and Review of the Literature. 遗传性肌病伴早期呼吸衰竭1例报告及文献复习。

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000549

Karlos Acurio, Niels Pacheco-Barrios, Irving G Calisaya-Madariaga, Fritz F Váscones-Román, Fernando Canazas-Paredes, Miguel Chuquilin

{"title":"Hereditary Myopathy With Early Respiratory Failure: A Case Report and Review of the Literature.","authors":"Karlos Acurio, Niels Pacheco-Barrios, Irving G Calisaya-Madariaga, Fritz F Váscones-Román, Fernando Canazas-Paredes, Miguel Chuquilin","doi":"10.1097/CND.0000000000000549","DOIUrl":"10.1097/CND.0000000000000549","url":null,"abstract":"Introduction: Hereditary myopathy with early respiratory failure (HMERF) is a rare myopathy resulting from a mutation on the TTN region of the titin gene. A case report and a thorough review of PubMed-reported cases were conducted.Design/methods: A 53-year-old man reported progressive lower extremity weakness and dyspnea. On examination, he had steppage gait and muscle strength was reduced in lower limb muscles. Electromyography showed myopathic findings in iliopsoas and gastrocnemius muscles. A lumbar magnetic resonance imaging demonstrated patchy fatty atrophy of iliopsoas and lumbar paraspinals muscles. Next-generation sequencing revealed a heterozygous titin gene (TTN) mutation c.95187 G > C (p.Trp31729Cys) consistent with the diagnosis of HMERF.Results: Fifty-eight patients of HMERF (14-78 years old) were identified. The earlier age of onset was 14 years. Most patients presented with limb muscle weakness but 11 began with an initial respiratory complaint. On average, patients required noninvasive ventilation 5.5 years postsymptom onset.Conclusions: HMERF should be considered in the differential diagnosis of an adult with concomitant respiratory and limb muscle weakness.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 3","pages":"112-115"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel Pathogenic Variants in the SBF2 Gene in Two Siblings With Charcot-Marie-Tooth Disease Type 4B2. 两名患有4B2型腓骨肌萎缩症的兄弟姐妹中SBF2基因的新致病变异

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000550

Aishani Vengala, Ruthwik Duvuru, Aravindhan Veerapandiyan

引用次数: 0

Pre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography. 神经根受累的帕索纳-特纳综合征神经丛前伸展的针肌电图。

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000553

Cecilia V Mitchell, Nathan P Young, Kitty Y Wu, Steven L Moran, Gokul Arumaithurai, Christopher J Klein, James B Meiling

{"title":"Pre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography.","authors":"Cecilia V Mitchell, Nathan P Young, Kitty Y Wu, Steven L Moran, Gokul Arumaithurai, Christopher J Klein, James B Meiling","doi":"10.1097/CND.0000000000000553","DOIUrl":"10.1097/CND.0000000000000553","url":null,"abstract":"Abstract: Parsonage-Turner syndrome (PTS) is an inflammatory, immune-mediated neurogenic condition characterized by acute-onset, severe unilateral shoulder/upper arm pain followed by patchy weakness and atrophy. Often described as an idiopathic brachial plexitis, most cases of PTS involve the brachial plexus or its terminal branches, and root-level or paraspinal muscle involvement is rare. Among the differential diagnoses for proximal neuropathic root involvement, cervical radiculopathy by mechanical compression of the exiting nerve roots and diabetic cervical radiculoplexus neuropathy by way of immune-mediated microvasculitis, ischemic injury, and subsequent ischemic axonal damage should be considered. The latter also shares similar symptomatology to PTS with progression with subacute, painful, asymmetric involvement of the upper limb followed by atrophy and weakness of the limb. Here, we present a case of PTS with notable findings of cervical paraspinal muscle involvement on needle electromyography, highlighting a rare proximal, pre-plexal extension of this idiopathic inflammatory immune process.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 3","pages":"105-107"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring Intimacy in Amyotrophic Lateral Sclerosis: A Pilot Study of Educational Support in a Multidisciplinary Clinic. 探讨肌萎缩侧索硬化症的亲密关系：多学科临床教育支持的初步研究。

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000546

Cassie Kuhn, Mark Bromberg, Amber Margolis, Heather Hayes

{"title":"Exploring Intimacy in Amyotrophic Lateral Sclerosis: A Pilot Study of Educational Support in a Multidisciplinary Clinic.","authors":"Cassie Kuhn, Mark Bromberg, Amber Margolis, Heather Hayes","doi":"10.1097/CND.0000000000000546","DOIUrl":"10.1097/CND.0000000000000546","url":null,"abstract":"Objective: This pilot study explored the feasibility and perceived usefulness of an educational intervention on intimacy delivered within a multidisciplinary ALS clinic.Methods: Individuals with ALS and their partners (if applicable) received the publicly available \"Sexuality, Intimacy & Chronic Illness\" fact sheet during routine clinic visits. A follow-up survey was conducted 4-6 weeks later to assess whether the information was informative, sufficient, and helpful. Demographic and clinical data were collected, and open-ended responses were analyzed descriptively.Results: Forty-two individuals received the fact sheet; 6 individuals and their partners (N = 12) completed follow-up surveys. Most respondents (83%) reported that ALS had impacted their intimate relationships, and 75% had discussed these changes with their partner. Half found the fact sheet informative, and 58% felt the information was sufficient. Open-ended responses revealed diverse needs, including interest in tailored content (eg, erectile dysfunction) and a desire for providers to ask permission before discussing intimacy. Caregivers described shifting roles and emotional strain, indicating that written materials alone may not fully address intimacy-related challenges.Conclusions: Integrating discussions of intimacy into ALS care is feasible and appreciated by some patients and partners. Although written educational materials may offer a useful starting point, a more personalized, consent-based approach-potentially modeled on frameworks like Ex-PLISSIT-may better address the relational needs of individuals with ALS and their caregivers. These findings support incorporating intimacy into holistic ALS care and developing guidelines to facilitate such discussions in multidisciplinary settings.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 3","pages":"82-88"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

To Draw Reliable Conclusions About the Demographics of COCID-19-Related and Unrelated GBS, Coherent Diagnostic Criteria Must Be Applied. 为了对covid -19相关和非相关的GBS的人口统计学得出可靠的结论，必须采用一致的诊断标准。

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000505

Fulvio A Scorza, Josef Finsterer

引用次数: 0

An Unusual Case of Anti-FGFR3 Antibodies, Sensory Neuropathy, and Adie Pupil in a Patient With Hodgkin Lymphoma in Remission and Review of the Literature. 一例罕见的抗fgfr3抗体、感觉神经病变和瞳孔缩小的霍奇金淋巴瘤缓解期患者及文献回顾

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000545

Sydney Peters, Wade Whitt, Alexis A Lizarraga

引用次数: 0

Amyotrophic Lateral Sclerosis Caused by a Pathogenic Variant in SOD1 Gene: An Atypical Rapidly Progressive Phenotype. 由SOD1基因致病变异引起的肌萎缩性侧索硬化症：一个非典型的快速进展表型。

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000548

Mariana Seco, Isabel Moreira, Jorge Oliveira, Sandra Moreira

引用次数: 0

Respiratory Onset Amyotrophic Lateral Sclerosis in a Patient With C9orf72 Expansion. C9orf72扩张患者的呼吸性肌萎缩侧索硬化症。

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000556

Reece M Hass, Sandra Reiter-Campeau, Ruple S Laughlin, Teerin Liewluck

引用次数: 0