• 대한임상검사과학회지
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• 제53권2호
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• pp.151-157
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• 2021

선천성 유전질환인 CMT와 후천성 면역 매개 질환인 CIDP는 임상적 증상이 유사하므로 두 질환의 감별진단을 위해서는 말초신경의 전기생리학적 특징을 비교하는 것이 도움이 될 수 있다. 본 연구는 CIDP와 CMT 1형으로 확진된 환자의 신경전도검사 결과 중 감각신경전도검사의 주요 지표별 결과를 후향적으로 정량분석하여 두 질환군의 전기생리학적 특징을 규명하고자 하였다. CIDP (N=35)와 CMT1 (N=30)로 확진된 환자의 dCNAP와 SNCV를 이용하여 두 질환군의 중증도 분석, 유의성 검정, 비정상 범위별 비율분석 및 상관분석을 실시하여 통계적 차이를 기반으로 특징을 비교하였다. 두 질환 모두 전신성 말초신경다발신경병증의 특징이 관찰되었고, 장딴지신경의 손상이 가장 심한 것으로 확인되었다. CMT1군은 탈수초성 및 축삭성 신경병증을 동반하는 전신성 신경병증이고, CIDP보다 더 중증의 신경병증임이 확인되었다. 또한, 상관계수 및 산점도 분석에서 CMT1은 신경 손상 범위가 전체 신경에서 균등한 전기생리학적 특징이 관찰되었다. 감각신경전도검사의 결과를 기반으로한 본 연구결과가 CIDP와 CMT 1형의 감별진단 및 연구에 도움이 될 것으로 사료된다.

• 대한물리치료과학회지
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• 제3권1호
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• pp.929-941
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• 1996

본 연구는 1994년 1월 24일부터 동년 4월 8일까지 부산 메리놀병원 내과 및 신경과에서 당뇨병으로 진단되어 당뇨교실에서 치료를 받고 있는 입원 및 외래환자 67명(남 37명, 여 30명 :평균연령 $52.55{\pm}13.67$세)과 병력 및 이학적 소견상 말초신경에 이상이 없다고 진단된 직원 및 그 가족 53명(남 28명, 여 25명 : 평균연령 $45.75{\pm}12.21$세)을 대상으로 본 병원 신경생리검사실에서 가중침자감각역치와 감각신경전도검사를 측정한 결과는 다음과 같다. 1. 가중침자감각역치는 양측 손과 발의 측정한 모든 부위에서 당뇨병 환자 중 증상군, 무증상군 그리고 대조군 간에 있어서 통계학적으로 유의한 차이를 나타냈는데, 대조군이 당뇨병 환자군보다 낮았고 당뇨병 환자중 무증상군이 증상군보다 낮게 나타났다. 2. 당뇨병 환자에 있어서 가중침자감각역치는 증상군과 무증상군 모두 연령과 당뇨병유병기간과는 통계학적으로 유의한 상관관계를 나타내어 연령이 많고 유병기간이 길수록 가중침자감각역치는 높았으며 기타 체중, 신장 및 교육수준과는 유의한 상관성이 없었다. 3. 대조군에 있어서 가중침자감각역치는 연령과는 통계학적으로 유의한 상관관계를 나타냈고 교육수준과는 역상관관계를 나타내어 연령이 많고 교육수준이 낮을 수록 가중침자감각역치는 높았으며 체중과 신장과는 유의한 상관성이 없었다. 4. 가중침자감각역치에 있어서 연령을 보정하고 각 부위별로 세 군 간의 상관관계를 살펴본 결과 우측 제 5수지와 좌측 발에서의 가중침자감각역치는 증상군과 무증상군, 증상군과 대조군 및 무증상군과 대조군 간에 모두 통계학적으로 유의한 차이를 나타냈으나(p<0.05), 그 외 양측 제 2수지와 좌측 제 5수지 그리고 우측 발에서의 가중침자감각역치는 증상군과 대조군, 그리고 무증상군과 대조군 간에서만 통계학적으로 유의한 차이를 나타냈고 증상군과 무증상군 간에는 유의한 차이가 나타나지 않았다(p<0.05). 5. 각 부위별 가중침자감각역치와 감각신경의 전도속도 및 활동전위 진폭과의 상관관계는 세 군 모두다 측정한 모든 부위에서 통계학적으로 유의한 상관관계를 나타냈다. 이상의 결과로 보아 감각신경 전도검사가 가중침자감각역치보다 정확한 검사이긴 하지만 가중침자감각역치는 당뇨크리닉의 외래에서 말초감각장애 정도를 신속히 알고 싶을 때나, 감각신경 전도검사가 불가능한 상황에서 표피감각을 측정하는데 매우 유용한 검사방법이라 생각된다.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.107-109
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• 2018

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not fulfill the criteria of demyelination or axonopathy. We describe a 37-year-old man with progressive bilateral leg weakness since his early teen. He suffered transient right hemiparesis, followed by quadriparesis at 14 years of age. When we examined him at 37 years of age, he presented a distal muscle weakness on lower extremities with a sensory symptom. The nerve conduction study demonstrated a motor conduction velocity between 26 and 49 m/s. The whole exome sequencing revealed a novel variant c.136 G>A in GJB1. This report will raise awareness in this rare disease, which is frequently misdiagnosed early in its course.

• Journal of Yeungnam Medical Science
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• 제6권1호
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• pp.151-163
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• 1989

건강한 성인 83명을 무작위로 선정하여 실시한 신경전도속도 검사에서 다음과 같은 결과를 얻었다. 1) 상지의 정중신경에서는 운동신경의 TL이 3.0-4.2msec 이고, MNCV는 각각 52.1-70.3m/sec(W-E), 44.6-71.0m/sec(E-Ax), 56.6-70.8m/sec(W-E), 50.5-75.1m/sec(E-Ax)이며, CNAP의 진폭은 $6.5-46.1{\mu}V$였다. 2) 척골신경에서는 운동신경의 TL이 2.4-3.4msec이고, MNCV는 각각 54.6-72.8m/sec(W-E), 41.1-64.9m/sec(E-Ax)이며, 진폭은 3.1-12.0mV였다. 척골신경의 MNCV는 각각 31.1-44.7m/sec(F-W)m, 55.9-70.9m/sec(W-E), 46.9-67.1m/sec(E-Ax)이며, CNAP의 진폭은 4.8-42.9${\mu}V$범위였다. 3) 요골신경에서는 운동신경의 TL이 1.9-2.7msec이고, MNCV는 53.1-77.5m/sec(W-E)이며, CMAP의 진폭은 1.1-6.6mV범위였다. 요골신경의 SNCV는 각각 38.5-52.1m/sec(F-V), 53.2-75.2m/sec(W-E) 이며, CNAP의 진폭은 $2.5-9.2{\mu}V$범위였다. 4) 하지의 비골신경에서는 운동신경의 TL이 3.5-5.7msec이며, MNCV는 각각 44.4-58.6m/sec(A-FH), 42.8-65.8m/sec(FH-PF)이며, CMAP의 진폭은 0.6-12.7mV 범위였다. 5) 후경골신경에서는 TL이 4.0-6.2m/sec이며, MNCV는 40.6-60.6m/sec이며, CMAP의 진폭은 3.9-29.2mV범위였다. 6) 비골신경의 SNCV는 37.5-49.5m/sec이며, CNAP의 진폭은 $0.7-17.1{\mu}V$범위였다. 7) H-반사의 평균 잠복기는 28.4msec였다.

• 대한근전도전기진단의학회지
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• 제20권2호
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• pp.91-97
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• 2018

Objective: The aim of this study was to compare the electrodiagnostic outcomes of carpal tunnel release in patients with and without diabetes with carpal tunnel syndrome (CTS), and to evaluate the effect of diabetes mellitus (DM) on electrodiagnostic outcomes. Method: We conducted a retrospective analysis of 67 patients with electro-diagnostic evidence of CTS. Patients were classified into two groups according to the presence of DM. Both groups were evaluated using nerve conduction studies preoperatively and 3 weeks and 3 months postoperatively. Results: There were no statistical differences in any of the electrodiagnostic parameters between groups 3 weeks postoperatively. However, there were statistical differences in the amplitude and the latency of compound muscle action potential, and sensory nerve conduction velocity 3 months postoperatively. Conclusion: Patients with DM did not show a significantly different outcome 3 weeks after surgery but showed a worse electrodiagnostic outcome 3 months after surgery than those without DM.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.89-91
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• 2020

Charcot-Marie-Tooth (CMT) disease can be divided mainly into demyelination and axonopathy based on the results of the electrophysiological study. Mitofusin 2, encoded by MFN2 gene, has a crucial role in the fusion of mitochondria, which is known to associate with CMT type 2A as one of the axonal forms. We describe a 44-year-old man with progressive weakness on bilateral legs after noticing foot drop in his early teen. When we examined him at 45 years of age, he presented atrophy on entire legs and with distal muscle weakness on limbs. The nerve conduction study revealed severely decreased amplitude on motor nerve ranging from 0.2 to 4.5 mV, while conduction velocity remained more than 30.4 m/s. The whole-exome sequencing revealed a novel variant c.2228G>T in MFN2 by efficient genetic analysis tool, MutationDistiller. This report will not only expand the mutation spectrum of CMT2A but also introduce a time-saving genetic analysis tool.

• Annals of Clinical Neurophysiology
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• 제13권1호
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• pp.31-37
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• 2011

Background: Carpal tunnel syndrome (CTS) and tarsal tunnel syndrome (TTS) are thought to share a similar pathophysiology, compression of the median and plantar nerve by the carpal tunnel and flexor retinaculum. A few reports introduced the relationship between idiopathic CTS and TTS without definite evidence of coexistence. The current study was designed to analyze the electrophysiologic characteristics of combined idiopathic CTS and TTS by comparing with each idiopathic CTS or TTS. Methods: We retrospectively collected patients with combined idiopathic CTS and TTS (CTS-TTS group) from June 2001 to February 2009. Patients with each idiopathic CTS or TTS were collected as controls. Electrophysiologic data of median and plantar nerves were compared between CTS-TTS group and controls. Results: CTS-TTS group was composed of 31 patients. Control group of each CTS or TTS were 50 CTS and 49 TTS patients. In comparison of median nerve conduction study between CTS-TTS group and CTS control group, decreased compound muscle action potential amplitude (p<0.001), decreased median sensory nerve action potential amplitude (p<0.001) and sensory nerve conduction velocity at finger stimulation (p=0.013) were prominent in CTS-TTS group. Decreased medial plantar sensory nerve action potential amplitude (p=0.034) was indicated when CTS-TTS groups and TTS control group were compared. Conclusions: If the electrophysiology study of patients with CTS or TTS was suggestive of severe degree of nerve injury, concerns about the possibility of combined CTS and TTS would be helpful.

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

• The Korean Journal of Physiology and Pharmacology
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• 제2권1호
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• pp.9-19
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• 1998

The present study was primarily carried out to characterize the properties of the spinomesencephalic tract (SMT) neurons that project from the upper cervical spinal segments to the midbrain. It was also investigated whether these neurons received convergent afferent inputs from other sources in addition to cervical inputs. Extracellular single unit recordings were made from neurons antidromically activated by stimulation of midbrain. Recording sites were located in lamina $I{\sim}VIII\;of\;C1{\sim}C3$ segments of spinal cord. Receptive field (RF) and response properties to mechanical stimulation were studied in 71 SMT neurons. Response profiles were classified into six groups: complex (Comp, n=9), wide dynamic range (WDR, n=16), low threshold (LT, n=5), high threshold (HT, n=6), deep/tap (Deep, n=10), and non- responsive (NR, n=25). Distributions of stimulation and recording sites were not significantly different between SMT groups classified upon their locations and/or response profiles. Mean conduction velocity of SMT neurons was $16.7{\pm}1.28\;m/sec$. Conduction velocities of SMTs recorded in superficial dorsal horn (SDH, n=15) were significantly slower than those of SMTs recorded in deep dorsal horn (DDH, n=18), lateral reticulated area (LRA, n=21), and intermediate zone and ventral horn (IZ/VH, n=15). Somatic RFs for SMTs in LRA and IZ/VH were significantly larger than those in SDH and DDH. Five SMT units (4 Comps and 1 HT) had inhibitory somatic RFs. About half (25/46) of SMT units have their RFs over trigeminal dermatome. Excitabilities of 5/12 cells and 9/13 cells were modulated by stimulation of ipsilateral phrenic nerve and vagus nerve, respectively. These results suggest that upper cervical SMT neurons are heterogenous in their function by showing a wide range of variety in location within the spinal gray matter, in response profile, and in convergent afferent input.

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