• Journal of Genetic Medicine
• /
• 제18권2호
• /
• pp.83-93
• /
• 2021

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal CMT type 2 (CMT2) neuropathy. CMT1 can be distinguished by assessing the median motor nerve conduction velocity as greater than 38 m/s. The main clinical features of axonal CMT2 neuropathy are distal muscle weakness and loss of sensory and areflexia. In addition, they showed unusual clinical features, including delayed development, hearing loss, pyramidal signs, vocal cord paralysis, optic atrophy, and abnormal pupillary reactions. Recently, customized treatments for genetic diseases have been developed, and pregnancy diagnosis can enable the birth of a normal child when the causative gene mutation is found in CMT2. Therefore, accurate diagnosis based on genotype/phenotypic correlations is becoming more important. In this review, we describe the latest findings on the phenotypic characteristics of axonal CMT2 neuropathy. We hope that this review will be useful for clinicians in regard to the diagnosis and treatment of CMT.

• Journal of Korean Neurosurgical Society
• /
• 제55권6호
• /
• pp.370-374
• /
• 2014

To present a case of cauda equina syndrome (CES) caused by chronic inflammatory demyelinating polyneuropathy (CIDP) which seemed clinically similar to Charcot-Marie-Tooth disease type1 (CMT1). CIDP is an immune-mediated polyneuropathy, either progressive or relapsing-remitting. It is a non-hereditary disorder characterized by symmetrical motor and sensory deficits. Rarely, spinal nerve roots can be involved, leading to CES by hypertrophic cauda equina. A 34-year-old man presented with low back pain, radicular pain, bilateral lower-extremity weakness, urinary incontinence, and constipation. He had had musculoskeletal deformities, such as hammertoes and pes cavus, since age 10. Lumbar spine magnetic resonance imaging showed diffuse thickening of the cauda equina. Electrophysiological testing showed increased distal latency, conduction blocks, temporal dispersion, and severe nerve conduction velocity slowing (3 m/s). We were not able to find genetic mutations at the PMP 22, MPZ, PRX, and EGR2 genes. The pathologic findings of the sural nerve biopsy revealed thinly myelinated nerve fibers with Schwann cells proliferation. We performed a decompressive laminectomy, intravenous IgG (IV-IgG) and oral steroid. At 1 week after surgery, most of his symptoms showed marked improvements except foot deformities. There was no relapse or aggravation of disease for 3 years. We diagnosed the case as an early-onset CIDP with cauda equine syndrome, whose initial clinical findings were similar to those of CMT1, and successfully managed with decompressive laminectomy, IV-IgG and oral steroid.

• Korean Journal of Radiology
• /
• 제23권2호
• /
• pp.237-245
• /
• 2022

Objective: Viscoelasticity is an essential feature of nerves, although little is known about their viscous properties. The discovery of shear wave dispersion (SWD) imaging has presented a new approach for the non-invasive evaluation of tissue viscosity. The present study investigated the feasibility of using SWD imaging to evaluate diabetic neuropathy using the sciatic nerve in a diabetic rat model. Materials and Methods: This study included 11 diabetic rats in the diabetic group and 12 healthy rats in the control group. Bilateral sciatic nerves were evaluated 3 months after treatment with streptozotocin. We measured the nerve cross-sectional area (CSA), nerve stiffness using shear wave elastography (SWE), and nerve viscosity using SWD imaging. The motor nerve conduction velocity (MNCV) was also measured. These four indicators and the histology of the sciatic nerves were then compared between the two groups. The performance of CSA, SWE, and SWD imaging in distinguishing the two groups was assessed using receiver operating characteristic (ROC) analysis. Results: Nerve CSA, stiffness, and viscosity in the diabetic group was significantly higher than those in the control group (all p < 0.05). The results also revealed a significantly lower MNCV in the diabetic group (p = 0.005). Additionally, the density of myelinated fibers was significantly lower in the diabetic group (p = 0.004). The average thickness of the myelin sheath was also lower in the diabetic group (p = 0.012). The area under the ROC curve for distinguishing the diabetic neuropathy group from the control group was 0.876 for SWD imaging, which was significantly greater than 0.677 for CSA (p = 0.030) and 0.705 for SWE (p = 0.035). Conclusion: Sciatic nerve viscosity measured using SWD imaging was significantly higher in diabetic rats. The viscosity measured using SWD imaging performed well in distinguishing the diabetic neuropathy group from the control group. Therefore, SWD imaging may be a promising method for the evaluation of diabetic neuropathy.

• PNF and Movement
• /
• 제19권1호
• /
• pp.97-104
• /
• 2021

Purpose: The human body can experience a variety of injuries. As a result, it may be difficult to directly treat the damaged area. In such a case, indirect treatment is required. Indirect treatment is typically PNF treatment. Morphological changes in muscle have been confirmed through several previous studies; however, few studies have analyzed neurological changes. Therefore, the purpose of this study was to determine how irradiation during resistance exercise using a diagonal pattern effects neurological excitability. Methods: Electromyography was performed on 13 healthy adults. A compound muscle action potential (CMAP) was obtained through a median motor nerve conduction velocity test, which was conducted before and after performing the irradiation exercise and general exercise. Results: Compared to baseline measurements, there was no significant difference in the latency of the irradiation exercise and general exercise. The amplitude of the CMAP measured after the irradiation exercise was significantly higher than after general exercise. Conclusion: Neurological excitability was high in irradiation during resistance exercise using a diagonal pattern. When clinically direct treatment is difficult, it is thought that irradiation can be used indirectly as a technique to induce nerve excitability.

• Journal of Korean Neurosurgical Society
• /
• 제42권5호
• /
• pp.382-387
• /
• 2007

Objective : Cubital tunnel syndrome is the second most common entrapment neuropathy of the upper extremity. Although many different operative techniques have been introduced, none of them have been proven superior to others. Simple cubital tunnel decompression has numerous advantages, including simplicity and safety. We present our experience of treating cubital tunnel syndrome with simple decompression in 15 patients. Methods : According to Dellon's criteria, one patient was classified as grade 1, eight as grade 2, and six as grade 3. Preoperative electrodiagnostic studies were performed in all patients and 7 of them were rechecked postoperatively. Five patients of 15 underwent simple decompression using a small skin incision (2 cm or less). Results : Preoperative mean value of motor conduction velocity (MCV) within the segment (above the elbow-below the elbow) was $41.8{\pm}15.2\;m/s$ and this result showed a decrease compared to the result of MCV in the below the elbow-wrist segment ($57.8{\pm}6.9\;m/s$) with statistical significance (p<0.05). Postoperative mean values of MCV were improved in 6 of 7 patients from $39.8{\pm}12.1\;m/s$ to $47.8{\pm}12.1\;m/s$ (p<0.05). After an average follow-up of $4.8{\pm}5.3$ months, 14 patients of 15 (93%) reported good or excellent clinical outcomes according to a modified Bishop scoring system. Five patients who had been treated using a small skin incision achieved good or excellent outcomes. There were no complications, recurrences, or subluxation of the ulnar nerve. Conclusion : Simple decompression of the ulnar nerve is an effective and successful minimally invasive technique for patients with cubital tunnel syndrome.

• Journal of Preventive Medicine and Public Health
• /
• 제28권2호
• /
• pp.398-405
• /
• 1995

We experienced a case of occupational lead poisoning employed in a secondary lead smelting plant for 12 years. The patient was 39-year-old male and had been felt dizziness, recent memory impairment and intermittent severe abdominal pain for 2 years. On admission, blood lead level was $92.9{\mu}g/dl$, urinary lead level was $19.9{\mu}g/l$ and zinc protoporphyrin level was $226.0{\mu}g/dl$. On the blood test, hemoglobin was 10.6g/dl and showed normocytic normochromic anemia. There were no abnormal findings in the biochemical and hormonal tests. Decrease of I.Q. and use of words in speaking were found in the psychiatric and psychologic examinations. We observed the finding of motor polyneuropathy in the nerve conduction velocity test. Computed tomographic finding showed calcification lesions in the basal ganglia, dentate nuclei, caudate nuclei, and especially characteristic multiple calcifications were located in the subcortical white matter.

• Journal of Preventive Medicine and Public Health
• /
• 제39권5호
• /
• pp.404-410
• /
• 2006

Objectives: This study examined the natural history of symptomatic patients who did or did not display abnormal results on nerve conduction studies (NCS). Methods: Forty hundred fifty adults were selected among a total of 578 residents who participated in the health examination in a rural Korean district. A symptom questionnaire and NCS were used to diagnose ulnar neuropathy at the elbow (UNE). There were 6.4% of the subjects with UNE, 5.1 % of the subjects showed symptoms without a NCS, and 84.2% of the subjects who were asymptomatic. One year later, 20 symptomatic limbs with an abnormality on the ulnar NCS and 22 symptomatic limbs without any abnormality in the ulnar NCS were enrolled in a follow-up study. The natural history of UNE was evaluated by examining the changes in the clinical and electrodiagnostic examinations. Results: The 1-year follow-up of the enrolled limbs found that for the symptomatic limbs with an abnormality on the NCS, the degree of severe of the clinical grade changed from 20% to 10%. In contrast, for the symptomatic limbs that were without any abnormality in the NCS, the change of the severe degree of the clinical grade was from 0% to 18.2%. Also, for the electrodiagnostic change, only symptomatic limbs without NCS abnormalities showed significant changes in motor latency, amplitude and conduction velocity at the 1-year follow-up. Conclusions: The 1-year follow-up study revealed symptomatic limbs that were without any abnormality on the ulnar NCS were more likely to progress than the symptomatic limbs with an abnormality on the ulnar NCS.

• Journal of Korean Neurosurgical Society
• /
• 제37권1호
• /
• pp.8-15
• /
• 2005

Objective: We evaluate temporal correlations between postoperative symptomatic and electrophysiological improvements, and assessed the recovery time required for patients with carpal tunnel syndrome(CTS) before returning to routine activities. Methods: 30 CTS patients were treated via the endoscopic monoportal approach, from March 2001 to September 2003. We assessed the symptoms (hyperesthesia in the finger tips, or abnormal sensations and painful numbness or night pain) and electrophysiological changes in the preoperative state, 1 month and 6 months after surgery. We marked the times at which patients became able to return to activities of daily living and work, after undergoing endoscopic carpal tunnel release. Results: At the end of the follow-up period, high levels of achievement and good outcomes were observed, with respect to both the symptoms and electrophysiological studies. We discovered significant differences between the preoperative and postoperative periods, especially in terms of motor nerve onset latency from $4.50{\pm}1.43$ to $3.97{\pm}0.69$ and sensory nerve conduction velocity, the wrist-to-finger from $19.81{\pm}10.03$ to $28.18{\pm}11.01$ and wrist-to-palm from $23.34{\pm}13.40$ to $31.79{\pm}13.38$(P<0.05 for each comparison). The average time interval required before return to activities of daily living was 26.4 days, and time interval required before return to work was 48.08 days. Conclusion: Electrophysiological improvements are largely consistent with symptomatic relief, but there is some disparity between electrophysiological and symptomatic improvement.

• The Journal of Korean Physical Therapy
• /
• 제11권3호
• /
• pp.1-12
• /
• 1999

The aim of this study is to examine the sensitivity and characteristics of electromyography abnormalities detected by using various paramenters in patients with lumbosacral radiculopathies. EMG is widely used for disgnosing and localizing the level of radiculopathy. The results of the study were as follow : 1. In electromyography, L5 radiculopathy usa 95 cases(51.690). S1 radiculopathy was $45m(24.5\%)$ L4 radiculopathy was 18cases $(9.8\%)$, and L2, 3 radiculopathy was 8cases$(4.3\%)$. Remains 18cases$(9.8\%)$ had no definite radiculopathy. 2. Peroneal and tibial motor nerve conduction velocity studies were not significant as compared to the side to side. 3. Latency of H-reflex in L5 radiculopathy was $30.55\pm2.47$ in affected side, $29.47\pm2.29$ in unaffected side, in S1 radiculopathy was $33.00\pm2.03$ in affected side, R30.18\pm2.21$ in unaffected side. It was statistically significant(p<0.01). H-reflex mean difference of S1 radiculopathy group was significantly prolonged as compared to the L5 and S1 radiculopathies(p<0.001). 4. In L2, 3 radiculopathy, abnormal spontaneous activities and motor unit action potentials were showed high sensitivity in upper lumber paraspinal, hip adductors, quadriceps and iliopsoas muscles. 5. In L4 radiculopathy, lower lumbar paraspinal, tibialis anterior, quadriceps muscles were showed high sensitivity. 6. In L5 radiculopathy, lower lumbar paraspinal, extensor hallucis longus, extensor digitorum longus, peroneus longus, extensor digitorum brevis, gluteus maximus, tensor fasciae latae muscles were showed high sensitivity. 7. In S1 radiculopathy, lower lumbar paraspinal, gluteus maximus, peroneus longus, soleus, abductor hallucis, hamstrings, extensor digitorum brevis, extensor hallucis lognus, gastrocnemius muscles were showed high sensitivity.

• Clinical and Experimental Pediatrics
• /
• 제59권6호
• /
• pp.271-275
• /
• 2016

Purpose: A limited number of studies have examined the link between F-wave abnormalities and clinical presentation in pediatric Guillain-$Barr{\acute{e}}$ syndrome (GBS). Therefore, this study examined the importance of F-wave abnormalities as a prognostic factor in pediatric GBS patients. Methods: The records and electrodiagnostic studies (EDS) of 70 GBS patients were retrospectively evaluated, and divided into 2 groups according to the results of EDS. Group A (n=33) presented with F-wave abnormalities, and group B (n=26) exhibited normal findings. We compared laboratory reports, clinical features, response to treatment, and prognosis between the 2 groups. Results: Motor weakness was the most frequently observed symptom for either group. Clinically, the incidence of fever and upper respiratory symptoms differed between the 2 groups, while the prevalence of abnormal deep tendon reflex (DTR) was significantly higher in group A than B (P<0.05). Patients diagnosed with GBS had received intravenous immunoglobulin treatment: 94% in group A and 58% in group B. Furthermore, significantly greater numbers of patients in group A showed H-reflex abnormalities and poor prognosis compared with group B (P<0.05). Conclusion: This study demonstrated that F-waves are a clinically important prognostic factor in GBS. F-wave abnormalities were associated with abnormal DTR and poor prognosis in patients. Limited studies have examined the link between F-wave abnormalities and clinical results; therefore, further randomized controlled studies are needed to confirm the clinical characteristics and efficacy of treatments.