1.Post-Traumatic Guillain-Barre Syndrome
Sung Ho JO ; Jongmin LEE ; Jungsoo LEE ; Ji Hyun KIM ; Jinseok PARK ; Seung Hyun KIM ; Ki-wook OH
Korean Journal of Neuromuscular Disorders 2020;12(1):13-15
Guillain-Barre syndrome (GBS) is acute inflammatory demyelinating polyradiculoneuropathy, which is often related to post-infectious etiology. However, GBS has also been reported to be caused by non-infectious factors such as trauma. This report describes a rare case of post-traumatic GBS with dramatic response to immunoglobulin therapy. And here, we also discussed about the importance of differential diagnosis with critical illness polyneuropathy.
2.Backpack Palsy Presenting as a First Manifestation of Hereditary Neuropathy with Liability to Pressure Palsy
Ho Sang YOON ; Soo Ji YOON ; Nam-Hee KIM
Korean Journal of Neuromuscular Disorders 2020;12(1):8-12
A 21-year-old soldier was admitted due to weakness after carrying a heavy military bag and marching for a long time. Neurophysiologic investigation revealed prominent involvement of right brachial plexus and upper cervical root with mild abnormalities of multiple nerves in the other extremities. Hereditary neuropathy with liability to pressure palsy was confirmed by gene test demonstrating deletion of PMP22 gene. This study presents backpack palsy can appear as a first manifestation of hereditary neuropathy with liability to pressure. The possibility of hereditary neuropathy with liability should be strongly considered in a young patient with non-symptomatic multiple neuropathy.
3.Acute Cerebral Infarction and Epilepsy in Duchenne Muscular Dystrophy
Grace Yoojin LEE ; Bang-Hoon CHO ; Kyung-Yul LEE
Korean Journal of Neuromuscular Disorders 2020;12(1):5-7
Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy caused by mutations in the dystrophin gene. Patients with DMD are more likely to have cerebral infarction than normal populations, possibly due to low ejection fraction and cardiomyopathy, and also higher epilepsy prevalence. Careful history taking and neurological examination are needed for differentiating new symptoms from preexisting weakness in DMD. Here, we present a young male with DMD and acute ischemic stroke followed by recurrent seizures.
4.Pain in Guillain-Barré Syndrome
Jong-Hee SOHN ; So Hyun AHN ; Seonmin YOON ; Jong Seok BAE
Korean Journal of Neuromuscular Disorders 2020;12(1):1-4
Pain in Guillain-Barré syndrome (GBS) is known as a common symptom, experienced by about 72% of patients. Various types of pain are associated with GBS, including paresthesia, dysesthesia, radicular pain, meningism, myalgia and visceral pain. Pain in GBS can vary from mild to severe, often under-recognized and poorly managed. This article reviews the various pains associated with Guillain-Barré syndrome and their management.
6.A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant
Min Soo SUNG ; Seung-Ah LEE ; Byeong Joo CHOI ; Young-Chul CHOI ; Hyung Jun PARK
Korean Journal of Neuromuscular Disorders 2022;14(1):16-19
We reported an age 32 male with progressive proximal muscle weakness. The serum creatine kinase was 1,908 IU/L. The muscle biopsy from biceps brachii muscle showed nonspecific myopathic changes. The whole exome sequencing identified a heterozygous variant (c.296A>C) in CAV3. It was previously reported as a likely pathogenic variant. It was also detected in the male’s mother and brother. However, his mother and brother had only hyperCKemia without muscle weakness. Our case showed phenotypic heterogeneity in a family, with the same variant in CAV3.
7.Muscle and Nerve Biopsy in Various Neuromuscular Disorders
Young-Eun PARK ; Jin-Hong SHIN ; Dae-Seong KIM
Korean Journal of Neuromuscular Disorders 2022;14(1):6-15
Muscle and nerve biopsy may be vital diagnostic tools in various neuromuscular disorders. Since these procedures are invasive, it matters to decide when to perform a biopsy, which muscle or nerve to be selected, and how to interpret the pathologies. This review addresses the indications, methods of biopsies, and also significant pathological findings frequently encountered in muscle and nerve pathology.
8.Autoantibody Testing in Neuromuscular Disorders
Korean Journal of Neuromuscular Disorders 2022;14(1):1-5
Autoantibodies are present in many autoimmune disorders, including diseases impacting the peripheral nerve, neuromuscular junction, and muscle. Some of these autoantibodies play a vital role in pathogenesis, whereas others are unlikely to be directly pathogenic, but may be useful biomarkers. The identification of autoantibodies is valuable in diagnosis, as well as in establishing a treatment plan in antibody-mediated neuromuscular disorders. This review briefly summarizes antibody, autoantibody, and methods of autoantibody testing for clinicians who treat patients with neuromuscular disorders.