Journal of Electrodiagnosis and Neuromuscular Diseases最新文献

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Comparison of the Vestibular Evoked Myogenic Potential and the Blink Reflex in Cerebellar and Brainstem Infarction Patients 小脑梗死和脑干梗死患者前庭诱发肌源电位和瞬目反射的比较
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-12-31 DOI: 10.18214/jend.2022.00164
Min Woo Kim, Jeong-Mee Park, Jiseon Hong, J. Jang, S. H. Kim
{"title":"Comparison of the Vestibular Evoked Myogenic Potential and the Blink Reflex in Cerebellar and Brainstem Infarction Patients","authors":"Min Woo Kim, Jeong-Mee Park, Jiseon Hong, J. Jang, S. H. Kim","doi":"10.18214/jend.2022.00164","DOIUrl":"https://doi.org/10.18214/jend.2022.00164","url":null,"abstract":"Objective: This study investigated whether the blink reflex could be substituted for the vestibular evoked myogenic potential (VEMP), which has some limitations for use in stroke patients.Methods: Thirty-four patients with cerebellar or brainstem ischemic stroke underwent VEMP and blink reflex testing. We compared the P13 latency of VEMP and the R1, R2, R2’ latency of the blink reflex in stroke patients. Statistical analysis was conducted using the Fisher exact test and independent t-test, with a p-value < 0.05 indicating statistical significance.Results: In 29 stroke patients, excluding those with bilateral lesions, the VEMP and the blink test did not show a statistically significant relationship (p = 0.2701). In all 34 stroke patients participating in the study, including those with bilateral lesions, R2’ mean showed a statistically significant difference (p = 0.0081) according to the presence of normal or abnormal VEMP. Conclusion: R2’ of the blink reflex passes through more neural pathways and polysynaptic pathways than R1 and R2; therefore, it showed a more prominent difference between the normal and abnormal VEMP groups.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123803525","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
Postoperative Lumbar Plexopathy Secondary to Retroperitoneal Liposarcoma: A Case Report 术后腰丛病继发于腹膜后脂肪肉瘤1例报告
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-12-31 DOI: 10.18214/jend.2022.00101
Kyung-Duk Kim, Kyeong Eun Uhm
{"title":"Postoperative Lumbar Plexopathy Secondary to Retroperitoneal Liposarcoma: A Case Report","authors":"Kyung-Duk Kim, Kyeong Eun Uhm","doi":"10.18214/jend.2022.00101","DOIUrl":"https://doi.org/10.18214/jend.2022.00101","url":null,"abstract":"Liposarcoma is a rare malignancy that usually originates in the extremities or the retroperitoneum. The lumbar plexus, a complex neural network formed by divisions of the first four lumbar roots, penetrates the psoas muscle before it exits the pelvis. Owing to their anatomical proximity, neoplasms in the vicinity of the psoas muscle may involve the lumbar plexus. We report a case of postoperative lumbar plexopathy involving the posterior divisions of the lumbar plexus, following the resection of a recurrent retroperitoneal liposarcoma located in the dorsal aspect of the psoas muscle. A 50-year-old man visited a rehabilitation clinic for an evaluation of proximal weakness of the unilateral lower extremity after resection of a recurrent liposarcoma of the left psoas muscle. Physical examination showed weakness of left hip flexion and knee extension accompanied by sensory loss in the left anteromedial thigh and the medial lower leg. An electrophysiological study revealed left lumbar plexopathy with selective involvement of the posterior divisions of the lumbar plexus. The patient could walk independently without a walking aid on level surfaces while he underwent exercise therapy. A comprehensive evaluation, including a physical examination, the use of imaging modalities such as computed tomography for anatomical characterization, and electrophysiological studies, is important for accurate diagnosis.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128138582","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
Venous Thoracic Outlet Syndrome Combined with Brachial Neuritis Caused by Lymphadenopathy after Vaccination for Coronavirus Disease 2019: A Case Report 2019冠状病毒疫苗接种后静脉胸廓出口综合征合并淋巴结病所致臂神经炎1例
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-12-31 DOI: 10.18214/jend.2022.00108
Hyun Jeong Lee, In-Suk Min, H. Lee, K. Kim, Sung Eun Hyun
{"title":"Venous Thoracic Outlet Syndrome Combined with Brachial Neuritis Caused by Lymphadenopathy after Vaccination for Coronavirus Disease 2019: A Case Report","authors":"Hyun Jeong Lee, In-Suk Min, H. Lee, K. Kim, Sung Eun Hyun","doi":"10.18214/jend.2022.00108","DOIUrl":"https://doi.org/10.18214/jend.2022.00108","url":null,"abstract":"Thoracic outlet syndrome (TOS) occurs due to compression of the neurovascular bundle exiting the thoracic outlet, through which the brachial plexus and subclavian vessels pass. Here, we report a case of venous TOS combined with brachial neuritis, which was caused by axillary lymphadenopathy after the first dose of the BNT162b2 vaccine against coronavirus disease 2019 (COVID-19). A 17-year-old female patient presented with left upper extremity swelling and pain after inoculation with the BNT162b2 vaccine in the left deltoid muscle. Contrast-enhanced brachial plexus magnetic resonance imaging revealed severe swelling of the left axillary and subclavian lymph nodes, which lie immediately above the subclavian vein. An electrodiagnostic study revealed left brachial plexopathy, mainly involving the lower trunk with mixed demyelinating and axonal injury. The patient received intravenous steroid pulse therapy and oral steroid therapy. A follow-up examination showed complete recovery of muscle strength and function, pain, and swelling in the left upper extremity within 3 months after vaccination against COVID-19.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125200536","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
MPZ-, GDAP1-, and NEFL-Related Charcot-Marie-Tooth Disease with Diverse Clinical and Electrophysiological Phenotypes MPZ-, GDAP1-和nefl相关的具有不同临床和电生理表型的腓骨肌萎缩症
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-12-31 DOI: 10.18214/jend.2022.00143
H. Kim, Hyeonjin Kwon, Sang Beom Kim, Ki-Wha Chung, Byung-Ok Choi
{"title":"MPZ-, GDAP1-, and NEFL-Related Charcot-Marie-Tooth Disease with Diverse Clinical and Electrophysiological Phenotypes","authors":"H. Kim, Hyeonjin Kwon, Sang Beom Kim, Ki-Wha Chung, Byung-Ok Choi","doi":"10.18214/jend.2022.00143","DOIUrl":"https://doi.org/10.18214/jend.2022.00143","url":null,"abstract":"Charcot-Marie-Tooth disease (CMT) is a spectrum of clinically and genetically heterogeneous peripheral neuropathies. CMT can be classified into demyelinating, intermediate, or axonal neuropathy based on clinical, histopathological, and electrophysiological findings. Approximately 140 genes have been reported to be associated with CMT. Mutations in the myelin protein zero (MPZ), ganglioside-induced differentiation related protein 1 (GDAP1), and neurofilament light-chain polypeptide gene (NEFL) genes have been reported to cause all three types of CMT, which is noteworthy because most CMT-related genes cause a single type of neuropathy (either demyelinating or axonal). In contrast, it remains unclear why these genes cause several types of CMT. CMT is presently incurable; however, ongoing attempts to treat CMT with various drugs and dietary supplements have increased the importance of an exact genetic diagnosis for precision medicine. Therefore, it is important to identify the causative mutations and compare the associated clinical characteristics. Taken together, a comparison of causative mutations and clinical features of patients with MPZ, GDAP1, and NEFL mutations will be the first step in understanding how different types of CMT are caused, and will enable a molecular genetic diagnosis. In this review, we describe the clinical, electrophysiological, and genetic characteristics of MPZ-, GDAP1-, and NEFL-related CMT.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125499412","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
Rectus Sheath Hematoma after Contralateral Intercostal Neuropathy as a Complication of Video-Assisted Thoracoscopic Surgery in a Patient with Asthma: A Case Report 对侧肋间神经病变并发直肌鞘血肿为哮喘患者电视胸腔镜手术并发症1例报告
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-08-31 DOI: 10.18214/jend.2022.00038
M. Gu, Minwoo Oh, Han Tae Kim, H. Kong
{"title":"Rectus Sheath Hematoma after Contralateral Intercostal Neuropathy as a Complication of Video-Assisted Thoracoscopic Surgery in a Patient with Asthma: A Case Report","authors":"M. Gu, Minwoo Oh, Han Tae Kim, H. Kong","doi":"10.18214/jend.2022.00038","DOIUrl":"https://doi.org/10.18214/jend.2022.00038","url":null,"abstract":"Rectus sheath hematoma (RSH) in patients who have undergone video-assisted thoracoscopic surgery (VATS) has not been reported to date. This report describes a case of RSH in a patient with right abdominal muscle atrophy due to an intercostal nerve injury following VATS. A 61-year-old male patient complained of a bulge in the right upper abdominal quadrant after undergoing VATS. Computed tomography (CT) revealed atrophied right abdominal muscles, including the rectus abdominis, and the electrodiagnostic findings were compatible with right 8th and 9th intercostal neuropathy. The patient visited the emergency room 444 days after undergoing VATS, complaining of a left abdominal mass and pain. He had a severe cough 2 weeks prior due to underlying asthma. CT revealed an RSH in the left abdomen that shrank after 4 weeks of observation. In cases of abdominal muscle weakness due to intercostal neuropathy following VATS, the precipitating factors for RSH must be managed thoroughly.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124988410","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
The Relationship Between Magnetic Resonance Imaging and Electrodiagnostic Studies in Patients with Ulnar Neuropathy at the Elbow 肘部尺神经病变的磁共振成像与电诊断研究的关系
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-08-31 DOI: 10.18214/jend.2021.00101
M. Kang, Yu Jin Seo, E. J. Ko, D. Kim, Jung Eun Lee, Min Hee Lee
{"title":"The Relationship Between Magnetic Resonance Imaging and Electrodiagnostic Studies in Patients with Ulnar Neuropathy at the Elbow","authors":"M. Kang, Yu Jin Seo, E. J. Ko, D. Kim, Jung Eun Lee, Min Hee Lee","doi":"10.18214/jend.2021.00101","DOIUrl":"https://doi.org/10.18214/jend.2021.00101","url":null,"abstract":"Objective: This study investigated the correlations between magnetic resonance imaging (MRI) and nerve conduction studies (NCS) in patients with ulnar neuropathy at the elbow (UNE).Methods:In total, 46 patients who underwent elbow MRI and NCS at a single center from 2014 to 2018 were included. Motor studies, including segmental and inching tests, and sensory NCS were performed. The 5-point severity score was evaluated based on the signal change and swelling in the fat-suppressed T2 weighted sequence. The findings of MRI and NCS were grouped into 3 categories. The Spearman rank test was used to evaluate correlations between the severity score on MRI and electrodiagnostic parameters.Results:The locations of the lesions on MRI and NCS were correlated in 20 of the 46 patients with UNE, while the other 20 patients had no correlations. Six patients who could not be categorized according to the location showed various findings. The severity score based on MRI showed significant negative correlations with amplitude on the segmental study (r = -0.423, p = 0.002) and the inching study (r = -0.456, p = 0.002), and with conduction velocity in the segmental study (r = -0.526, p < 0.001) and the inching study (r = -0.548, p < 0.001).Conclusion Electrodiagnostic outcomes had negative correlations with the severity score, reflecting the structural changes seen on MRI. Combining electrodiagnostic studies and MRI could make the diagnosis and localization more precise.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121585354","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
Neoplastic Lumbosacral Plexopathy in Untreated Cervical Cancer: A Case Report 未经治疗的宫颈癌致肿瘤性腰骶神经丛病1例报告
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-08-31 DOI: 10.18214/jend.2022.00017
M. Kang, Nackhwan Kim, Ki Hoon Kim, D. H. Kim
{"title":"Neoplastic Lumbosacral Plexopathy in Untreated Cervical Cancer: A Case Report","authors":"M. Kang, Nackhwan Kim, Ki Hoon Kim, D. H. Kim","doi":"10.18214/jend.2022.00017","DOIUrl":"https://doi.org/10.18214/jend.2022.00017","url":null,"abstract":"In this report, we present the case of a patient with cervical adenocarcinoma with progressive right lower-extremity pain and weakness. Electromyography of the lower extremities and subsequent ultrasonographic imaging complementarily demonstrated findings considered suspicious for the perineural spread of malignancy to the lumbosacral plexus and sciatic nerve. This possibility was confirmed by magnetic resonance imaging (MRI) and fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) scanning. This case report suggests that in addition to MRI and FDG PET/CT scans, electromyography and ultrasonographic imaging are valuable modalities for the diagnosis of perineural malignancy.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114784711","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
Severe Isolated Peripheral Polyneuropathy without Myelopathy after Nitrous Oxide Abuse: A Case Report 滥用氧化亚氮后无脊髓病的严重孤立性周围多神经病变1例报告
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-08-31 DOI: 10.18214/jend.2022.00073
S. Baek, Seungbo Lee, Yu-Mi Kim, Eun-Sil Kim
{"title":"Severe Isolated Peripheral Polyneuropathy without Myelopathy after Nitrous Oxide Abuse: A Case Report","authors":"S. Baek, Seungbo Lee, Yu-Mi Kim, Eun-Sil Kim","doi":"10.18214/jend.2022.00073","DOIUrl":"https://doi.org/10.18214/jend.2022.00073","url":null,"abstract":"Nitrous oxide (N2O) abuse induces vitamin B12 deficiency, resulting in complications in the central and peripheral nervous systems. Some cases related to subacute combined degeneration or myeloneuropathy after N2O abuse have been reported. However, isolated peripheral polyneuropathy without spinal cord involvement has rarely been reported in South Korea. We describe a 29-year-old woman who had inhaled “happy balloons” daily (1,000 balloons/day) for recreational purposes over 3-month period, and presented with acute symmetrical hypoesthesia, paresthesia, and motor weakness on the bilateral lower limbs. Serologic tests showed megaloblastic anemia and vitamin B12 deficiency. Magnetic resonance imaging of the brain and spine showed no abnormalities. An electrodiagnostic study confirmed lower limb-dominant axonal sensorimotor polyneuropathy due to vitamin B12 deficiency from N2O abuse. The patient was treated with intramuscular vitamin B12 replacement. A follow-up electrodiagnostic study 4 months after the initial study showed only partial improvement. Despite the legal efforts of the Korean government to ban the use of N2O other than for medical purposes, cases of complications from its abuse are on the rise, especially among young adults. Physicians should recognize the strong possibility of N2O abuse as an underlying cause of vitamin B12 responsive polyneuropathy with or without spinal cord involvement.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"115 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117115367","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
Acute Transverse Myelitis after Varicella-Zoster Virus Infection in an Immunocompetent Patient: A Case Report 免疫功能正常患者水痘-带状疱疹病毒感染后急性横断面脊髓炎一例报告
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-08-31 DOI: 10.18214/jend.2021.00122
Jehyun Yoo, H. Kim, K. Park, Ju Kang Lee, O. Lim
{"title":"Acute Transverse Myelitis after Varicella-Zoster Virus Infection in an Immunocompetent Patient: A Case Report","authors":"Jehyun Yoo, H. Kim, K. Park, Ju Kang Lee, O. Lim","doi":"10.18214/jend.2021.00122","DOIUrl":"https://doi.org/10.18214/jend.2021.00122","url":null,"abstract":"Herpes zoster is caused by reactivated varicella-zoster virus (VZV) and characterized by a painful skin rash with vesicles that affects the adjacent dermatomes. Transverse myelitis is a rare complication of VZV infection that may even occur in immunocompetent patients. Here, we report a 60-year-old male patient admitted with right lower-extremity weakness and hypesthesia. Spine magnetic resonance imaging (MRI) revealed transverse myelitis at the C3–C4 and T6 levels. A month prior to admission, the patient was diagnosed with herpes zoster involving the right T2-T4 dermatome. Considering his history of VZV infection, he was treated with intravenous steroids and acyclovir. Eleven days after hospitalization, paraplegia developed to Medical Research Council grade 0/5 despite performing plasmapheresis. MRI confirmed the aggravation of the cord lesion between T4 and T7. Acute transverse myelitis after VZV infection is a rare disease that can cause serious sequelae in immunocompetent patients. Therefore, clinicians should be cautious of this situation.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127337212","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
Clinical and Pathological Findings of Korean Patients with Selenoprotein N-Related Myopathy 韩国硒蛋白n相关性肌病的临床和病理分析
Journal of Electrodiagnosis and Neuromuscular Diseases Pub Date : 2022-08-31 DOI: 10.18214/jend.2022.00045
Seung-Ah Lee, Young-Chul Choi, H. Park
{"title":"Clinical and Pathological Findings of Korean Patients with Selenoprotein N-Related Myopathy","authors":"Seung-Ah Lee, Young-Chul Choi, H. Park","doi":"10.18214/jend.2022.00045","DOIUrl":"https://doi.org/10.18214/jend.2022.00045","url":null,"abstract":"Objective: This study investigated the clinical, pathological, and genetic characteristics of 5 Korean patients with selenoprotein N-related myopathy (SELENON-RM).Methods: Five unrelated patients were genetically diagnosed with SELENON-RM by whole-exome or targeted gene panel sequencing. We then analyzed their clinical, pathological, and genetic spectra.Results: The median age at symptom onset was 3 years (interquartile range, 2–10 years). The most common clinical finding was proximal muscle weakness in all 5 patients, followed by spinal scoliosis and respiratory distress in 4 patients and delayed motor development in 2 patients. Other uncommon clinical findings were winged scapula in one patient and cardiomegaly in one patient. Magnetic resonance imaging of muscles revealed that fatty replacement was predominant in the paraspinal muscles, adductors, semimembranosus, semitendinosus, long head of the biceps femoris, and medial gastrocnemius. Muscle biopsies in 2 patients showed type 1 predominance and multiple eccentric cores within the fibers. We identified 5 pathogenic variants of SELENON. The most common variant was the c.1574T > G variant in 5 alleles (50%) in 4 patients (80%).Conclusion: In the first report of SELENON-RM in Korea, we identified 5 SELENON-RM patients and expanded existing knowledge on the clinical and genetic spectrum of these patients.","PeriodicalId":440658,"journal":{"name":"Journal of Electrodiagnosis and Neuromuscular Diseases","volume":"122 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126054409","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
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