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Journal of Clinical Neuromuscular Disease最新文献

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Chronic Myopathy as the Initial Manifestation of Thyrotoxicosis: A Report of 2 Cases. 慢性肌病为甲状腺毒症的首发表现:附2例报告。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000415
Mario B Prado, Karen Joy B Adiao
{"title":"Chronic Myopathy as the Initial Manifestation of Thyrotoxicosis: A Report of 2 Cases.","authors":"Mario B Prado,&nbsp;Karen Joy B Adiao","doi":"10.1097/CND.0000000000000415","DOIUrl":"https://doi.org/10.1097/CND.0000000000000415","url":null,"abstract":"<p><strong>Introduction: </strong>Rarely, hyperthyroidism will initially present with chronic myopathy characterized by progressive and sometimes fluctuating proximal muscle weakness, along with elevated creatine kinase and myopathic pattern in the electromyogram, mimicking other muscle and neuromuscular junction disorders with poorer prognosis.</p><p><strong>Cases: </strong>Here, we present 2 young patients who complained of 1-4 months duration of chronic proximal muscle lower extremity weakness, supported by elevated creatine kinase and myopathic pattern in electromyogram, who later found to have markedly low thyroid-stimulating hormone, high free T3 and free T4, enlarged thyroid gland on ultrasound, and elevated anti-thyroid-stimulating hormone receptor antibody, characteristic of Grave disease.</p><p><strong>Conclusions: </strong>Although rare, thyrotoxicosis should always be ruled out in a patient with chronic myopathy because this has better prognosis than other primary muscle conditions presenting similarly.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10693396","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
Pseudoacute Presentation of Inclusion Body Myositis After COVID-19 Infection. COVID-19感染后包涵体肌炎的假急性表现。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000393
Meabh O'Hare, Anthony A Amato
{"title":"Pseudoacute Presentation of Inclusion Body Myositis After COVID-19 Infection.","authors":"Meabh O'Hare,&nbsp;Anthony A Amato","doi":"10.1097/CND.0000000000000393","DOIUrl":"https://doi.org/10.1097/CND.0000000000000393","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40480315","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
Myalgic Becker Muscular Dystrophy Due to an Exon 15 Point Mutation: Case Series and Literature Review. 外显子15点突变引起的肌痛性贝克肌萎缩症:病例系列和文献回顾。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000413
Zachary Tavallaee, Tyler Hamby, Warren Marks
{"title":"Myalgic Becker Muscular Dystrophy Due to an Exon 15 Point Mutation: Case Series and Literature Review.","authors":"Zachary Tavallaee,&nbsp;Tyler Hamby,&nbsp;Warren Marks","doi":"10.1097/CND.0000000000000413","DOIUrl":"https://doi.org/10.1097/CND.0000000000000413","url":null,"abstract":"<p><strong>Abstract: </strong>Dystrophinopathies result from mutations to the DMD gene. We report 5 boys in 3 families with heterogenous phenotypes due to a point mutation in the DMD gene: a hemizygous tyrosine-to-cysteine change in exon 15 (c.1724T>C) resulting in an amino acid substitution of leucine to proline at codon 575. This mutation has been reported before, with at least 3 prior patients presenting with similar clinical findings of myalgia, myoglobinuria, and occasional muscle cramping. The mutation on DMD c.1724T>C (p.Leu575Pro) is listed in the Clinvar database as a variant of unknown significance. Our report provides contributing evidence that this alteration should be classified as pathogenic.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10693393","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
Testosterone Therapy for Dropped Head Syndrome: A Case Report. 睾酮治疗低头综合征1例报告。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000372
Timothy J Felong, Lucia L Balos, Nicholas J Silvestri
{"title":"Testosterone Therapy for Dropped Head Syndrome: A Case Report.","authors":"Timothy J Felong,&nbsp;Lucia L Balos,&nbsp;Nicholas J Silvestri","doi":"10.1097/CND.0000000000000372","DOIUrl":"https://doi.org/10.1097/CND.0000000000000372","url":null,"abstract":"<p><strong>Abstract: </strong>Dropped head syndrome (DHS) is an impairment of neck extension resulting in a chin-on-chest deformity. DHS is rarely seen but a major hindrance to daily function in affected patients. DHS has been associated with movement disorders, neuromuscular disorders, and electrolyte and endocrine abnormalities. DHS has also been seen in survivors of Hodgkin lymphoma (HL) years after irradiation. HL survivors are also at risk for endocrine hypogonadism after chemotherapy. We present the case of a 58-year-old male HL survivor with dropped head and limited strength in his atrophic neck extensor muscles. Laboratory testing and imaging, nerve conduction studies, electromyography, and muscle biopsy of the neck extensors revealed myopathic and neurogenic changes. Conservative management was unsuccessful. With a desire to avoid surgical fixation, he asked his primary care physician to check his testosterone levels, which returned as low normal. Within 4 months of starting testosterone therapy, he no longer experienced dropped head.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40480313","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: 1
Neuralgic Amyotrophy After ChAdOx1 nCoV-19 COVID-19 Vaccination. ChAdOx1 ncov - 1919疫苗接种后神经性肌萎缩。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000396
Joe James, Jinu Johnson, James Jose
{"title":"Neuralgic Amyotrophy After ChAdOx1 nCoV-19 COVID-19 Vaccination.","authors":"Joe James,&nbsp;Jinu Johnson,&nbsp;James Jose","doi":"10.1097/CND.0000000000000396","DOIUrl":"https://doi.org/10.1097/CND.0000000000000396","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40480316","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
Postoperative C5 Palsy: A Clinical and Electrophysiological Study. 术后C5麻痹:临床和电生理研究。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000414
Thananan Thammongkolchai, Pichet Termsarasab, Bashar Katirji
{"title":"Postoperative C5 Palsy: A Clinical and Electrophysiological Study.","authors":"Thananan Thammongkolchai,&nbsp;Pichet Termsarasab,&nbsp;Bashar Katirji","doi":"10.1097/CND.0000000000000414","DOIUrl":"https://doi.org/10.1097/CND.0000000000000414","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10693397","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
Electrophysiology and Magnetic Resonance Neurography Findings of Nontraumatic Ulnar Mononeuropathy From a Tertiary Care Center. 非外伤性尺侧单神经病变的电生理和磁共振神经造影结果。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000419
Kishan Raj, Divya M Radhakrishnan, Parthiban Bala, Ajay Garg, Animesh Das, Garima Shukla, Vinay Goyal, Achal Kumar Srivastava
{"title":"Electrophysiology and Magnetic Resonance Neurography Findings of Nontraumatic Ulnar Mononeuropathy From a Tertiary Care Center.","authors":"Kishan Raj,&nbsp;Divya M Radhakrishnan,&nbsp;Parthiban Bala,&nbsp;Ajay Garg,&nbsp;Animesh Das,&nbsp;Garima Shukla,&nbsp;Vinay Goyal,&nbsp;Achal Kumar Srivastava","doi":"10.1097/CND.0000000000000419","DOIUrl":"https://doi.org/10.1097/CND.0000000000000419","url":null,"abstract":"<p><strong>Background: </strong>Ulnar nerve is frequently involved in mononeuropathies of the upper limb. Ulnar neuropathies have been diagnosed conventionally using clinical and electrophysiological findings. Physicians opt for nerve imaging in patients with ambiguous electrophysiological tests to gain additional information, identify etiology and plan management.</p><p><strong>Objectives: </strong>The aim of this study was to describe the electrophysiological and the magnetic resonance neurography (MRN) findings in patients with nontraumatic ulnar neuropathy.</p><p><strong>Methods: </strong>All consecutive patients with suspected nontraumatic ulnar mononeuropathy were recruited; clinical assessment and electrophysiological studies (EPSs) were done in all. After EPS, patients with localization of lesion along the ulnar nerve underwent MRN.</p><p><strong>Results: </strong>All 39 patients recruited had clinical findings suggestive of ulnar neuropathy; Electrophysiological confirmation was possible in 36/39 (92.30%) patients. Localization of ulnar nerve lesion to elbow and wrist was possible in 27 (75%) and 9 (25%) patients, respectively. MRN was done in 22 patients; a lesion was identified in 19 of 22 (86.36%) ulnar nerves studied. Thickening and hyperintensity in T2 W/short TI inversion recovery images of ulnar nerve at the level of olecranon, suggesting ulnar neuropathy at elbow, was the commonest (8/22) imaging finding.</p><p><strong>Conclusions: </strong>MRN acts as a complimentary tool to EPS for evaluating nontraumatic ulnar neuropathy. By identifying the etiology, MRN is likely to modify the management decision.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40477881","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
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation. 伴随对接蛋白7突变的终生类固醇反应性家族性肌病。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000398
Shin J Oh, Peter H King, Alice Schindler
{"title":"Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.","authors":"Shin J Oh,&nbsp;Peter H King,&nbsp;Alice Schindler","doi":"10.1097/CND.0000000000000398","DOIUrl":"https://doi.org/10.1097/CND.0000000000000398","url":null,"abstract":"<p><strong>Abstract: </strong>Docking protein 7 (DOK7) congenital myasthenic syndrome (CMS) is characterized by limb-girdle weakness and lack of fluctuating fatigability simulating many familial myopathies. Albuterol is the first line of therapy in view of consistent improvement. Two brothers with progressive predominant biceps weakness for 1-3 years responded to prednisone treatment for 40-50 years. Various studies including muscle biopsy and many laboratory studies were unsuccessful for the definite diagnosis. Gene study, 40 years after the initial evaluation, confirmed the diagnosis of DOK7 CMS. These are the first reported cases of DOK7 CMS associated with a sustained benefit from corticosteroids.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40477884","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
Rituximab as Maintenance Therapy in Multifocal Motor Neuropathy: Report of Two Cases. 利妥昔单抗维持治疗多灶性运动神经病变2例报告。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000412
Soumya Sundaram, Vaibhav Tandon, Sruthi S Nair
{"title":"Rituximab as Maintenance Therapy in Multifocal Motor Neuropathy: Report of Two Cases.","authors":"Soumya Sundaram,&nbsp;Vaibhav Tandon,&nbsp;Sruthi S Nair","doi":"10.1097/CND.0000000000000412","DOIUrl":"https://doi.org/10.1097/CND.0000000000000412","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40480317","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
Double Seropositive Myasthenia Gravis Successfully Treated With Rituximab. 利妥昔单抗成功治疗双血清阳性重症肌无力。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000410
Vasiliki Zouvelou, Erasmia Psimenou
{"title":"Double Seropositive Myasthenia Gravis Successfully Treated With Rituximab.","authors":"Vasiliki Zouvelou,&nbsp;Erasmia Psimenou","doi":"10.1097/CND.0000000000000410","DOIUrl":"https://doi.org/10.1097/CND.0000000000000410","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40480318","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: 1
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