Pub Date : 2023-12-31DOI: 10.46518/kjnmd.2023.15.2.57
Hyeon Seo Oh, Jung Im Seok
{"title":"Idiopathic Trigeminal Neuropathy with Partial Enhancement in the Lateral Portion of Cisternal Segment","authors":"Hyeon Seo Oh, Jung Im Seok","doi":"10.46518/kjnmd.2023.15.2.57","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.2.57","url":null,"abstract":"","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"110 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139133683","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}
Pub Date : 2023-12-31DOI: 10.46518/kjnmd.2023.15.2.50
Jong Woo Yoo, Sung Sik Kim, Hee Jo Han, Se Hoon Kim, Ha Young Shin
Leprosy is a chronic infectious disease caused by Mycobacterium leprae. It can lead to damage of the nerve. Although the incidence of leprosy is very low in South Korea, a large number of people are immigrating to South Korea from countries with a high prevalence of leprosy. We report a case of leprosy confirmed by nerve biopsy. The patient was from Nepal who presented with progressive and asymmetric sensory loss. Leprosy can be considered as a differential diagnosis in patients with progressive and asymmetric sensory loss, especially when patients are from leprosy endemic countries.
{"title":"A Case Report of Leprosy Presenting as Multiple Mononeuropathy with Hypoesthesia","authors":"Jong Woo Yoo, Sung Sik Kim, Hee Jo Han, Se Hoon Kim, Ha Young Shin","doi":"10.46518/kjnmd.2023.15.2.50","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.2.50","url":null,"abstract":"Leprosy is a chronic infectious disease caused by Mycobacterium leprae. It can lead to damage of the nerve. Although the incidence of leprosy is very low in South Korea, a large number of people are immigrating to South Korea from countries with a high prevalence of leprosy. We report a case of leprosy confirmed by nerve biopsy. The patient was from Nepal who presented with progressive and asymmetric sensory loss. Leprosy can be considered as a differential diagnosis in patients with progressive and asymmetric sensory loss, especially when patients are from leprosy endemic countries.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":" 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139135791","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}
Pub Date : 2023-12-31DOI: 10.46518/kjnmd.2023.15.2.36
Kyomin Choi
Bell's palsy is one of the most common outpatient problems in neurologic clinics. The diagnosis of Bell's palsy is typically made through clinical evaluation. Characteristic findings include the acute onset of unilateral lower motor neuron facial paralysis, reaching its peak within 72 hours. However, there are numerous diagnostic pitfalls related to the differential diagnosis, including neoplasms, autoimmune disorders, trauma, and infections. For an accurate diagnosis, recognizing the anatomical background and identifying atypical clinical features of Bell's palsy is crucial. Oral steroids are considered the optimal treatment, and antiviral agents may play a beneficial role. Even without treatment, the prognosis for Bell's palsy is generally favorable, but long-standing sequelae are also possible and should be considered for functional, aesthetic, and psychological aspects.
{"title":"Diagnosis and Treatment of Bell’s Palsy","authors":"Kyomin Choi","doi":"10.46518/kjnmd.2023.15.2.36","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.2.36","url":null,"abstract":"Bell's palsy is one of the most common outpatient problems in neurologic clinics. The diagnosis of Bell's palsy is typically made through clinical evaluation. Characteristic findings include the acute onset of unilateral lower motor neuron facial paralysis, reaching its peak within 72 hours. However, there are numerous diagnostic pitfalls related to the differential diagnosis, including neoplasms, autoimmune disorders, trauma, and infections. For an accurate diagnosis, recognizing the anatomical background and identifying atypical clinical features of Bell's palsy is crucial. Oral steroids are considered the optimal treatment, and antiviral agents may play a beneficial role. Even without treatment, the prognosis for Bell's palsy is generally favorable, but long-standing sequelae are also possible and should be considered for functional, aesthetic, and psychological aspects.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":" 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139136088","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}
Pub Date : 2023-12-31DOI: 10.46518/kjnmd.2023.15.2.54
Eunbyol Hwang, Jae Young An
{"title":"Acute Bacterial Pyomyositis with Multiple Small Abscesses in a Diabetic Patient","authors":"Eunbyol Hwang, Jae Young An","doi":"10.46518/kjnmd.2023.15.2.54","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.2.54","url":null,"abstract":"","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"64 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139131004","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}
Pub Date : 2023-12-31DOI: 10.46518/kjnmd.2023.15.2.31
Jeeun Lee
Genetic muscle diseases encompass a group of conditions where genetic alterations affect skeletal muscles, leading to muscle weakness and hypotonia. Presently, the focus of treatment is on managing symptoms rather than addressing the root cause of the disease. However, recent advancements in gene therapy offer potential cure for these diseases, with over 180 genes identified as contributing factors. Encouraging results have emerged from preclinical trials conducted using animal models, prompting the initiation of several clinical trials aimed at assessing the safety and efficacy of gene therapy in human patients. In this review, we aim to provide an overview of the fundamental concept of gene therapy and discuss ongoing clinical trials that hold promise for curing genetic muscle diseases.
{"title":"Gene Therapy for Genetic Muscle Diseases","authors":"Jeeun Lee","doi":"10.46518/kjnmd.2023.15.2.31","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.2.31","url":null,"abstract":"Genetic muscle diseases encompass a group of conditions where genetic alterations affect skeletal muscles, leading to muscle weakness and hypotonia. Presently, the focus of treatment is on managing symptoms rather than addressing the root cause of the disease. However, recent advancements in gene therapy offer potential cure for these diseases, with over 180 genes identified as contributing factors. Encouraging results have emerged from preclinical trials conducted using animal models, prompting the initiation of several clinical trials aimed at assessing the safety and efficacy of gene therapy in human patients. In this review, we aim to provide an overview of the fundamental concept of gene therapy and discuss ongoing clinical trials that hold promise for curing genetic muscle diseases.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"102 30","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139134946","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}
Pub Date : 2023-12-31DOI: 10.46518/kjnmd.2023.15.2.46
Soo-Im Jang, Seong Yeon Park, Sungim Choi, Eun-Ja Lee, Soo-Hyun Park, Nam-Hee Kim
Invasive fungal infection remains a major cause of morbidity and mortality in immunocompromised patients. Invasive fungal sinusitis can present as a Tolosa-Hunt syndrome (THS) or orbital apex, leading to frequent misdiagnosis. Accurate diagnosis of fungal infection invading the cavernous sinus or orbital apex is essential to reduce mortality through early antifungal treatment and reduce the risk of worsening with steroid treatment due to misdiagnosis of THS. Herein, we report a case of invasive fungal sinusitis mimicking THS.
{"title":"Invasive Aspergillosis Mimicking Tolosa-Hunt Syndrome: A Case Report","authors":"Soo-Im Jang, Seong Yeon Park, Sungim Choi, Eun-Ja Lee, Soo-Hyun Park, Nam-Hee Kim","doi":"10.46518/kjnmd.2023.15.2.46","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.2.46","url":null,"abstract":"Invasive fungal infection remains a major cause of morbidity and mortality in immunocompromised patients. Invasive fungal sinusitis can present as a Tolosa-Hunt syndrome (THS) or orbital apex, leading to frequent misdiagnosis. Accurate diagnosis of fungal infection invading the cavernous sinus or orbital apex is essential to reduce mortality through early antifungal treatment and reduce the risk of worsening with steroid treatment due to misdiagnosis of THS. Herein, we report a case of invasive fungal sinusitis mimicking THS.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"105 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139133721","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}
Pub Date : 2023-06-30DOI: 10.46518/kjnmd.2023.15.1.8
Nam-Hee Kim
Trigeminal neuralgia (TN) is a highly disabling disorder characterized by very severe, brief, electric shocks, like recurrent episodes of facial pain. New diagnostic criteria classifying TN on the basis of the presence of trigeminal neurovascular conflict or an underlying neurological disorder can help better characterize patients and determine treatments. Magnetic resonance imaging using specific sequences should be a part of the diagnostic workup to detect a possible neurovascular contact and exclude secondary causes. Carbamazepine and oxcarbazepine are drugs of first choice for long-term treatment, whereas microvascular decompression is the first-line surgical management of medically refractory patients. This review aimed to review the classification, clinical features, pathophysiology, diagnostic approaches, and management of TN.
{"title":"A Practical Review of Trigeminal Neuralgia","authors":"Nam-Hee Kim","doi":"10.46518/kjnmd.2023.15.1.8","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.1.8","url":null,"abstract":"Trigeminal neuralgia (TN) is a highly disabling disorder characterized by very severe, brief, electric shocks, like recurrent episodes of facial pain. New diagnostic criteria classifying TN on the basis of the presence of trigeminal neurovascular conflict or an underlying neurological disorder can help better characterize patients and determine treatments. Magnetic resonance imaging using specific sequences should be a part of the diagnostic workup to detect a possible neurovascular contact and exclude secondary causes. Carbamazepine and oxcarbazepine are drugs of first choice for long-term treatment, whereas microvascular decompression is the first-line surgical management of medically refractory patients. This review aimed to review the classification, clinical features, pathophysiology, diagnostic approaches, and management of TN.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124856213","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}
Pub Date : 2023-06-30DOI: 10.46518/kjnmd.2023.15.1.1
J. Cho
Respiratory muscle weakness caused by neuromuscular disease can lead to both acute and chronic respiratory failure. Respiratory failure caused by Guillain-Barré syndrome and myasthenia gravis can potentially improve with disease-specific therapy. However, respiratory failure in amyotrophic lateral sclerosis is irreversible, and it may be necessary to provide full-time ventilation support along with additional assistance. Noninvasive ventilation is recommended for managing acute or acute-on-chronic hypercapnic respiratory failure caused by neuromuscular disease. It has also been effective in weaning patients off invasive mechanical ventilation. Although noninvasive ventilation offers numerous benefits over invasive mechanical ventilation, it is crucial to consider the specific contraindications and limitations of noninvasive ventilation and ensure its appropriate usage based on the patient's condition and needs. The timely recognition of neuromuscular respiratory failure is critical, as early intervention can be life-saving. This review focused on the clinical assessment and management of acute respiratory failure in neuromuscular diseases.
{"title":"Acute Neuromuscular Respiratory Failure","authors":"J. Cho","doi":"10.46518/kjnmd.2023.15.1.1","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.1.1","url":null,"abstract":"Respiratory muscle weakness caused by neuromuscular disease can lead to both acute and chronic respiratory failure. Respiratory failure caused by Guillain-Barré syndrome and myasthenia gravis can potentially improve with disease-specific therapy. However, respiratory failure in amyotrophic lateral sclerosis is irreversible, and it may be necessary to provide full-time ventilation support along with additional assistance. Noninvasive ventilation is recommended for managing acute or acute-on-chronic hypercapnic respiratory failure caused by neuromuscular disease. It has also been effective in weaning patients off invasive mechanical ventilation. Although noninvasive ventilation offers numerous benefits over invasive mechanical ventilation, it is crucial to consider the specific contraindications and limitations of noninvasive ventilation and ensure its appropriate usage based on the patient's condition and needs. The timely recognition of neuromuscular respiratory failure is critical, as early intervention can be life-saving. This review focused on the clinical assessment and management of acute respiratory failure in neuromuscular diseases.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123802673","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}
Pub Date : 2023-06-30DOI: 10.46518/kjnmd.2023.15.1.28
Sunjun Kim, Yerim Kim, Juyoung Lee, S. Cho, J. Bae
Address for correspondence: Jong Seok Bae, MD, PhD Department of Neurology, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, 150 Seongan-ro, Gangdong-gu, Seoul 05355, Korea Tel: +82-2-2224-2206, Fax: +82-2-2224-2339, E-mail: jsbae69@gmail.com pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 15 No. 1, June 2023 https://doi.org/10.46518/kjnmd.2023.15.1.28 Brief Communication
{"title":"Limb-Girdle Type Myasthenia Gravis Diagnosed with Invasive Thymic Carcinoma","authors":"Sunjun Kim, Yerim Kim, Juyoung Lee, S. Cho, J. Bae","doi":"10.46518/kjnmd.2023.15.1.28","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.1.28","url":null,"abstract":"Address for correspondence: Jong Seok Bae, MD, PhD Department of Neurology, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, 150 Seongan-ro, Gangdong-gu, Seoul 05355, Korea Tel: +82-2-2224-2206, Fax: +82-2-2224-2339, E-mail: jsbae69@gmail.com pISSN 2093-3312 eISSN 2765-2246 Korean Journal of Neuromuscular Disorders Vol. 15 No. 1, June 2023 https://doi.org/10.46518/kjnmd.2023.15.1.28 Brief Communication","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"187 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124744899","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}
Pub Date : 2023-06-30DOI: 10.46518/kjnmd.2023.15.1.24
Soo-Im Jang, Soo-Hyun Park, Seul-Gi Choi, Sae-Nal Lee, Jiyoung An, Nam-Hee Kim
Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the bulbar and extremity muscles with CAG triplet repeat expansion in the androgen receptor gene. Hirayama disease (HD) is characterized by the juvenile onset of asymmetric weakness and amyotrophy of the hand and is most common in males in Asia. We report a patient with atypical Kennedy disease presenting with asymmetric hand weakness and atrophy typical of HD.
{"title":"Probable Kennedy Disease Mimicking Hirayama Disease: A Case Report","authors":"Soo-Im Jang, Soo-Hyun Park, Seul-Gi Choi, Sae-Nal Lee, Jiyoung An, Nam-Hee Kim","doi":"10.46518/kjnmd.2023.15.1.24","DOIUrl":"https://doi.org/10.46518/kjnmd.2023.15.1.24","url":null,"abstract":"Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the bulbar and extremity muscles with CAG triplet repeat expansion in the androgen receptor gene. Hirayama disease (HD) is characterized by the juvenile onset of asymmetric weakness and amyotrophy of the hand and is most common in males in Asia. We report a patient with atypical Kennedy disease presenting with asymmetric hand weakness and atrophy typical of HD.","PeriodicalId":101680,"journal":{"name":"Korean Journal of Neuromuscular Disorders","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131988467","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}
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