Journal of Clinical Neuromuscular Disease最新文献_第5页

Camptocormia as an Unusual Presenting Symptom of Myotonic Dystrophy Type 2: An Overlooked Cause of Axial Myopathy. 喜树病是2型强直性肌营养不良的一种不寻常的症状:一种被忽视的轴型肌病病因。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 DOI: 10.1097/CND.0000000000000417

Efthalia Angelopoulou, Georgia Karadima, Efstratios-Stylianos Pyrgelis, Thomas Zambelis, Vasiliki Zouvelou

引用次数: 0

Characteristics of Peripheral Neuropathy in Patients With Livedoid Vasculopathy. 活体样血管病变患者周围神经病变的特点。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 DOI: 10.1097/CND.0000000000000435

Harish Eswaran, Rebecca Traub, Paul Googe, Stephan Moll

{"title":"Characteristics of Peripheral Neuropathy in Patients With Livedoid Vasculopathy.","authors":"Harish Eswaran, Rebecca Traub, Paul Googe, Stephan Moll","doi":"10.1097/CND.0000000000000435","DOIUrl":"https://doi.org/10.1097/CND.0000000000000435","url":null,"abstract":"Abstract: Livedoid vasculopathy (LV) is an ulcerative disorder of the lower extremities characterized by dermal vessel thrombosis with unclear cause. Recent reports of LV-associated upper extremity peripheral neuropathy and epineurial thrombosis suggest a systemic etiology for the condition. We sought to outline the characteristics of peripheral neuropathy in patients with LV. Cases of LV with concurrent peripheral neuropathy and reviewable electrodiagnostic testing reports were identified by electronic medical record database query and examined in detail. Of 53 patients with LV, 33 (62%) had peripheral neuropathy, 11 had reviewable electrodiagnostic reports, and 6 had no clear alternative explanation for neuropathy. Distal symmetric polyneuropathy was the most commonly observed pattern of neuropathy (n = 3) followed by mononeuropathy multiplex (n = 2). Most patients experienced symptoms in both upper and lower extremities (n = 4). Peripheral neuropathy is common in patients with LV. Whether this association is reflective of a systemic, prothrombotic etiology remains to be determined.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10314363","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

Guillain-Barre Syndrome After the Third BNT162b2 Dose in an Adolescent Without Side Effects After the First and Second Jab. 第一次和第二次注射后无副作用的青少年第三剂BNT162b2后的格林-巴利综合征。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 DOI: 10.1097/CND.0000000000000434

Josef Finsterer

引用次数: 0

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome. 神经病变、共济失调和色素性视网膜炎综合征。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 DOI: 10.1097/CND.0000000000000422

Josef Finsterer

{"title":"Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.","authors":"Josef Finsterer","doi":"10.1097/CND.0000000000000422","DOIUrl":"https://doi.org/10.1097/CND.0000000000000422","url":null,"abstract":"Objectives: To provide an overview about the phenotype, genotype, treatment, and outcome of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome.Methods: Systematic review by application of appropriate search terms.Results: NARP syndrome is a syndromic mitochondrial disorder due to pathogenic variants in MT-ATP6. The canonical phenotypic features of NARP syndrome include proximal muscle weakness, axonal neuropathy, cerebellar ataxia, and retinitis pigmentosa. Noncanonical phenotypic features in NARP include epilepsy, cerebral or cerebellar atrophy, optic atrophy, cognitive impairment, dementia, sleep apnea syndrome, hearing impairment, renal insufficiency, and diabetes. So far, 10 pathogenic variants in MT-ATP6 have been associated with NARP, NARP-like syndrome, or NARP/maternally inherited Leigh overlap syndrome. Most pathogenic MT-ATP6 variants are missense, but a few truncating pathogenic variants have been reported. The most common variant responsible for NARP is the transversion m.8993T>G. Only symptomatic treatment for NARP syndrome is available. In most of the cases, patients die prematurely. Patients with late-onset NARP survive longer.Conclusions: NARP is a rare, syndromic, monogenic mitochondrial disorder due to pathogenic variants in MT-ATP6. The nervous system and the eyes are most commonly affected. Although only symptomatic treatment is available, the outcome is usually fair.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10131957","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: 2

Small-Fiber Neuropathy After Vaccination With mRNA-1273 SARS-CoV-2 Vaccine. mRNA-1273 SARS-CoV-2疫苗接种后的小纤维神经病变。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 Epub Date: 2023-02-16 DOI: 10.1097/CND.0000000000000432

James H Bernheimer, Baohan Pan, Bonnie J Gerecke

引用次数: 1

Acute and Chronic Demyelinating Neuropathies After COVID-19 Vaccination: A Report of 4 Cases. COVID-19疫苗接种后急性和慢性脱髓鞘神经病变4例报告

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 DOI: 10.1097/CND.0000000000000418

Erin Dennis, Elizabeth Hartman, Nicolas Cortes-Penfield, Ezequiel Piccione, Pariwat Thaisetthawatkul

{"title":"Acute and Chronic Demyelinating Neuropathies After COVID-19 Vaccination: A Report of 4 Cases.","authors":"Erin Dennis, Elizabeth Hartman, Nicolas Cortes-Penfield, Ezequiel Piccione, Pariwat Thaisetthawatkul","doi":"10.1097/CND.0000000000000418","DOIUrl":"https://doi.org/10.1097/CND.0000000000000418","url":null,"abstract":"Objectives: To report demyelinating neuropathies after COVID-19 vaccination.Methods: Case report.Results: Four cases of demyelinating neuropathies after COVID-19 vaccination were identified at the University of Nebraska Medical Center from May to September 2021. Three were male and 1 was a female, ages 26-64 years. Three cases received Pfizer-BioNTech vaccine and 1 Johnson & Johnson. Symptom onset ranged from 2 to 21 days after vaccination. Two cases had progressive limb weakness, 3 had facial diplegia, and all had sensory symptoms and areflexia. The diagnosis was acute inflammatory demyelinating polyneuropathy in 1 case and chronic inflammatory demyelinating polyradiculoneuropathy in 3. All cases received treatment with intravenous immunoglobulin, with significant improvement in 3 of 4 who had a long-term outpatient follow-up.Conclusions: Continued identification and reporting of cases of demyelinating neuropathies after COVID-19 vaccination is essential to determine whether a causative association is present.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10764048","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

Refractory Seronegative Immune-Mediated Necrotizing Myopathy After Receiving mRNA-1273 SARS-CoV-2 Vaccine: A Case Report. 接受mRNA-1273 SARS-CoV-2疫苗后难治性血清阴性免疫介导的坏死性肌病1例报告

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 DOI: 10.1097/CND.0000000000000431

Chin-Hen Chang, Riju Gupta, Devy Setyono, Areli K Cuevas-Ocampo, Mohammad A Khoshnoodi

引用次数: 0

Complex Repetitive Discharges Seen in Polymyalgia Rheumatica. 风湿性多肌痛的复杂重复性放电。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 DOI: 10.1097/CND.0000000000000427

Michael P Skolka, Ruple S Laughlin

引用次数: 0

Unilateral Facial Palsy After SARS-CoV-2 Booster Vaccination. SARS-CoV-2强化疫苗接种后的单侧面瘫。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-03-01 DOI: 10.1097/CND.0000000000000416

Navpreet K Bains, Dinanath Praveen Attele, Adnan I Qureshi

引用次数: 0

45th ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Dallas, Texas, Thursday-Friday, February 23-24, 2023: Meeting Convener: Susan T. Iannaccone, MD, FAAN. 第45届年度CARRELL-KRUSEN神经肌肉研讨会，达拉斯，德克萨斯州，周四至周五，2023年2月23日至24日:会议召集人:Susan T. Iannaccone，医学博士，FAAN。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-02-01 DOI: 10.1097/CND.0000000000000443

引用次数: 1