Journal Detail Information

1

Cite

Share

Neuromuscular Junction Disease Modeling and Therapeutic Screening Using Zebrafish

Journal of Electrodiagnosis and Neuromuscular Diseases.2024;26(3):41-48. doi:10.18214/jend.2024.00066

Disorders of the neuromuscular junction (NMJ), which is crucial for signal transduction between nerve and muscle cells in the peripheral nervous system, ultimately lead to dysfunction in both nerves and muscles. Zebrafish have become a valuable model for studying peripheral neuropathy, owing to their high genetic similarity to humans and the transparency that allows for direct observation of NMJ formation and function in vivo. This review introduces various methods used to create zebrafish NMJ disease models, including genetic manipulation, chemical treatment, and physical damage induction. Additionally, we discuss experimental techniques such as immunostaining, behavioral analysis, and electrophysiological testing, which are used to assess NMJ structure and function in these models. We also explore how potential NMJ disease treatments have been applied and validated using zebrafish NMJ models, highlighting their significant benefits for high-throughput drug screening. In summary, this review aims to illustrate the utility of zebrafish as an in vivo platform for studying mechanisms and developing treatments for NMJ diseases.

2

Cite

Share

Sciatic Nerve Injury after an Intramuscular Injection into the Gluteal Region

Sangpil SON ; Sol LEE ; Jae In YOU ; Minji CHAE

Journal of Electrodiagnosis and Neuromuscular Diseases.2024;26(3):53-57. doi:10.18214/jend.2024.00024

The sciatic nerve can be injured through various mechanisms, including direct compression and ischemia related to traumatic events. Reports of iatrogenic sciatic nerve injury caused by misplaced intramuscular injections are rare. We present a case involving a 5-year-old patient who developed motor weakness and hypesthesia in the left lower extremity following an intramuscular injection of diclofenac into the left buttock. An electrodiagnostic study diagnosed the patient with an injury to the left sciatic nerve, primarily affecting its peroneal division. This diagnosis was later confirmed by radiologic evaluation. Following several weeks of rehabilitation, which included gait pattern correction, verbal cueing, and electrical stimulation therapy, the patient showed improvement in sensory deficits and motor impairment. The peroneal portion of the sciatic nerve is more susceptible to injury than the tibial portion due to its structural characteristics. Additionally, the sciatic nerve follows various paths as it passes the piriformis muscle. Certain drugs, such as diclofenac, exhibit greater neurotoxicity than others. When neurologic deficits are observed, an electrodiagnostic study is recommended. This helps not only in identifying the etiology and precise location of the neural insult but also in predicting the prognosis and formulating a comprehensive treatment plan.

3

Cite

Share

Isolated Conus Medullaris Infarction: Rare Cases Highlighting Diagnostic Challenges and Clinical Insights

Yuri JE ; Seokho CHOI ; Han-Jin CHO ; Young-Eun PARK

Journal of Electrodiagnosis and Neuromuscular Diseases.2024;26(3):58-61. doi:10.18214/jend.2023.00185

Spinal cord infarction that exclusively affects the conus medullaris is exceptionally rare. The dominant symptoms include flaccid paraparesis, sensory deficits with or without saddle anesthesia, and neurogenic bladder, all of which mimic cauda equina syndrome. We report two cases where patients initially presented with sudden onset of leg monoparesis, sensory deficits, and voiding difficulties. Although initially suspected of having lumbosacral radiculopathy or cauda equina syndrome, they were later diagnosed with conus medullaris infarction, as evidenced by their clinical course and spine magnetic resonance imaging findings. This report provides detailed clinical information about conus medullaris infarction, supplemented by a review of the literature, to aid in the diagnosis of this condition.

4

Cite

Share

TDP-43 as a Fluid Biomarker in Amyotrophic Lateral Sclerosis

Seok-Jin CHOI

Journal of Electrodiagnosis and Neuromuscular Diseases.2024;26(3):49-52. doi:10.18214/jend.2024.00080

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the death of both upper and lower motor neurons in the brain, brainstem, and spinal cord. In approximately 95% of cases, ALS is associated with the nuclear-cytoplasmic mislocalization and aggregation of TAR DNA-binding protein 43 (TDP-43). The diagnosis of ALS is based solely on clinical assessments, including neurological examinations and electromyography studies, and currently, there is no reliable biomarker for diagnosing ALS using antemortem tissues. Additionally, while TDP-43 positron emission tomography ligands are being investigated, they are not yet widely available for assessing brain TDP-43 pathology. Therefore, a robust fluid biomarker that reflects pathological TDP-43 accumulation in the central nervous system is essential for confirming an ALS diagnosis. In this context, we provide a comprehensive summary of the current status of fluid biomarker development, focusing on TDP-43 pathology, and discuss the existing limitations as well as future directions for ALS biomarker discovery.

5

Cite

Share

Spinal Cord Infarction Associated with Coronavirus Disease 2019: A Case Report with Magnetic Resonance Imaging Insights

Kyeongil MIN ; Myung Woo PARK ; Hyun Iee SHIN ; Byung Chan LEE ; Du Hwan KIM

Journal of Electrodiagnosis and Neuromuscular Diseases.2024;26(3):62-67. doi:10.18214/jend.2024.00045

Coronavirus disease 2019 (COVID-19) has been associated with various neurological complications, including the rare occurrence of spinal cord infarction. In this report, we present the case of a 42-year-old man who developed sudden quadriplegia after being diagnosed with COVID-19. Initial magnetic resonance imaging (MRI) provided inconclusive results; however, subsequent imaging revealed diffusion restriction and vertebral body signal changes, indicative of ischemic changes in the spinal cord. The patient received anticoagulation and corticosteroid therapy followed by rehabilitation, resulting in partial recovery of motor function. This case illustrates the importance of considering spinal cord infarction in patients with COVID-19 who present with neurological symptoms. Furthermore, it highlights the crucial role of MRI, including diffusion-weighted imaging, in diagnosis.

6

Cite

Share

Neuromuscular Electrodiagnostic Medicine: Future Perspectives

Faye Y. CHIOU-TAN

Journal of Electrodiagnosis and Neuromuscular Diseases.2025;27(1):6-11. doi:10.18214/jend.2025.00010

Advances in neuromuscular medicine have ushered in a new era of discovery and research. Innovations have emerged in fascicular electrodiagnosis, high-frequency musculoskeletal ultrasound, and treatments for neuromuscular diseases. This article discusses the latest discoveries impacting neuromuscular medicine. These include the development of fascicular nerve clinics, the integration of artificial intelligence, and explorations in space medicine. In education, neuromuscular fellowships are being established to meet these evolving needs. Just as the historic journey to the moon spawned a new space race, neuromuscular medicine has entered a period of renaissance.

7

Cite

Share

Therapeutic Applications of Genome Editing Tools for Genetic Diseases

Ju-Chan PARK ; Sangsu BAE

Journal of Electrodiagnosis and Neuromuscular Diseases.2025;27(1):1-5. doi:10.18214/jend.2024.00073

Since the discovery of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRISPR-associated (Cas) genome editing technologies, significant efforts have been made to improve their efficiency and accuracy. Consequently, advanced tools such as base editors (BEs) and prime editors (PEs) have emerged over the past decade. Today, CRISPR, BE, and PE systems are actively employed in treating genetic diseases. Notably, CASGEVY by CRISPR therapeutics—the world’s first gene editing treatment using CRISPR technology—received approval from the Food and Drug Administration of both the United Kingdom and the United States last year. This review highlights recent advancements in various CRISPR technologies for therapeutic applications in genetic diseases.

8

Cite

Share

Bilateral Brachial Neuritis Associated with Infectious Mononucleosis

Ji Young KIM ; Ju Kang LEE

Journal of Electrodiagnosis and Neuromuscular Diseases.2025;27(1):23-27. doi:10.18214/jend.2024.00052

Infectious mononucleosis is caused by the Epstein-Barr virus (EBV) and may rarely result in neurological complications. Here, we report a case of brachial neuritis following EBV-induced infectious mononucleosis. A 28-year-old female presented with a sore throat and mild fever and was diagnosed with infectious mononucleosis. At that time, she also experienced bilateral shoulder pain and muscle weakness, for which she received intravenous steroid pulse therapy followed by oral steroids. Despite treatment, she continued to exhibit persistent muscle weakness. An electrodiagnostic study later revealed axonal neuropathy with signs of regeneration in both the axillary and suprascapular nerves, consistent with brachial neuritis. The patient was instructed in exercises to strengthen her shoulder muscles and maintain joint range of motion during outpatient visits, leading to an improvement in her symptoms.

9

Cite

Share

Delayed Diagnosis of Brachial Plexus Injury Due to Vertebral Arteriovenous Fistula Caused by Blunt Trauma

Jin Gee PARK ; Jae Yeon KIM ; Young Sook PARK ; Hyun Jung CHANG ; Eun Sol CHO ; Da Hye KIM ; Jeong Hwan LEE ; Se Jin KIM

Journal of Electrodiagnosis and Neuromuscular Diseases.2025;27(1):18-22. doi:10.18214/jend.2024.00031

Vertebral arteriovenous fistula (VAVF) is a rare lesion characterized by an abnormal connection between the extracranial vertebral artery and the surrounding venous plexus. It typically arises due to penetrating injury, although it can occasionally result from blunt trauma. Brachial plexus injury (BPI) is also infrequently associated with VAVF. We present a rare case of VAVF caused by blunt trauma, which resulted in BPI. The patient, who had previously sustained a C2 fracture and C2–3 myelopathy from a bicycle accident, presented with new-onset weakness in the right upper extremity. His previous clinical history led to an initial suspicion of either an exacerbation of a pre-existing lesion or a shoulder injury. However, electromyography indicated that the weakness was due to BPI. Further evaluations later revealed VAVF to be the primary cause of the BPI. VAVF must be recognized as a rare potential reason for BPI, as timely intervention is essential for improving patient recovery and prognosis.

10

Cite

Share

Hereditary Transthyretin Amyloidosis with Polyneuropathy

Dae-Hyun JANG

Journal of Electrodiagnosis and Neuromuscular Diseases.2025;27(1):12-17. doi:10.18214/jend.2024.00087

Variant transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, progressive multisystem disorder caused by pathogenic variants in the transthyretin (TTR) gene. Primarily characterized by polyneuropathy, the disease results from amyloid fibril deposition in the endoneurium, which leads to progressive sensory, motor, and autonomic impairments. ATTRv-PN exhibits significant clinical heterogeneity driven by genotype–phenotype correlations, complicating diagnosis—especially in nonendemic regions. Early recognition through genetic testing, advanced imaging techniques, and tissue biopsies is essential to initiate timely treatment and improve patient outcomes. The therapeutic landscape has advanced considerably with the development of TTR stabilizers, such as tafamidis and diflunisal, which slow disease progression by preventing TTR tetramer dissociation. Moreover, gene‐silencing therapies—including patisiran, vutrisiran, inotersen, and eplontersen—target TTR mRNA to reduce amyloid formation and have demonstrated substantial efficacy in clinical trials. These treatments improve neuropathy progression, quality of life, and survival, particularly when initiated early. This review emphasizes the critical importance of early detection, personalized treatment strategies, and ongoing research into innovative therapies to address the unmet needs of patients with ATTRv-PN. Continued advances in diagnostic tools and therapeutic approaches hold promise for significantly improving prognosis and quality of life for affected individuals.

DISPLAY OPTIONS

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share