Spinal cord infarction (SCI) is a rare but devastating complication of venoarterial extracorporeal membrane oxygenation (VA-ECMO). We report the case of a 62-year-old man who developed paraplegia with sensory deficits following VA-ECMO for septic shock. Magnetic resonance imaging demonstrated posterior spinal artery (PSA) infarction at the T11–T12 level. Electrodiagnostic studies revealed atypical findings, including absent sensory nerve action potentials and compound muscle action potentials, along with denervation of the lumbar paraspinal muscles. These abnormalities are not fully explained by PSA infarction alone and suggest the coexistence of central and peripheral mechanisms. This case illustrates a rare presentation of posterior SCI following VA-ECMO with atypical neurophysiological features and highlights the importance of multimodal evaluation for accurate diagnosis and rehabilitation planning.

Perineural (Nabors type II) cysts are typically located at the dorsal root ganglion (DRG) and are rarely reported in the cervical spine. When present, they are usually solitary and confined to the DRG level. We report a rare case of cervical perineural cysts occurring both at the DRG and proximal to the DRG within the same nerve root sleeve. A 53-year-old woman presented with intermittent left arm pain and numbness involving the left thumb, index finger, and thenar region, suggestive of C6 radiculopathy. Magnetic resonance imaging revealed a central-to-left C5-C6 disc herniation that mildly indented the ventral epidural space without significant compression of the C6 nerve root, as well as a central C6–C7 disc herniation that did not narrow the neural foramen or contact the C7 nerve root. Notably, a perineural cyst proximal to the DRG directly compressed the left C6 dorsal nerve root. Electrodiagnostic studies were normal. This case demonstrates that perineural cysts can occur proximal to the DRG and may contribute to radicular symptoms. Recognition of atypical cyst locations may improve diagnostic accuracy.

Ischemic neuropathy is an uncommon cause of peripheral nerve injury that results from compromised blood flow or oxygen delivery to the vasa nervorum. We report a rare case of multiple ischemic mononeuropathies of the right lower limb that developed after percutaneous coronary intervention (PCI). A 57-year-old man who underwent PCI for ST-elevation myocardial infarction presented with persistent weakness, sensory disturbance, and pain in the right lower limb. Electrodiagnostic studies performed 4 weeks after symptom onset revealed findings consistent with multiple mononeuropathies of the right lower limb. In cases of ischemic neuropathy associated with arterial occlusion, prompt vascular imaging and revascularization of the occluded artery are essential to minimize neurological deficits and optimize motor recovery.

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.

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.

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.

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.

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.

Superior mesenteric artery (SMA) syndrome is a rare cause of duodenal obstruction that may occur after rapid weight loss or anatomical changes. Patients with Duchenne muscular dystrophy (DMD) are particularly vulnerable due to progressive muscle wasting and scoliosis correction. We report a unique case of recurrent SMA syndrome in a patient with end-stage DMD who required prolonged noninvasive ventilation. After initial nutritional interventions, the patient experienced two recurrences within 15 months. Laparoscopic gastrojejunostomy was safely performed after the second recurrence, despite severely compromised respiratory and cardiac function. This case underscores the importance of early recognition and timely surgical consideration in refractory SMA syndrome, even in patients with advanced neuromuscular disease.

Objective: Inherited myopathies are a diverse group of genetic muscle disorders characterized by muscle weakness and dysfunction resulting from mutations in genes with a wide range of biological functions. This study was performed to elucidate genetic causes in a large family with late-onset myofibrillar myopathy. Methods: Whole-exome sequencing was first applied to the proband, and then subsequent filtering process and in silico analysis was performed to determine causative mutation. Results: This study identified an unreported likely pathogenic mutation, p.Met160Ile, in the LIM domain binding 3 (LDB3) gene. This missense mutation showed complete cosegregation with affected individuals and was located at an evolutionarily well-conserved site. Several in silico analyses, along with simulations of three-dimensional structural changes in the mutant protein, predicted its potential pathogenicity. Conclusion These findings expand the current understanding of the genetic basis of inherited myopathy and underscore the importance of comprehensive genetic analysis in clinical practice.