• Title/Summary/Keyword: Hereditary sensory and motor neuropathy

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A Case Report of a Patient with Sensory Disturbance of the Hands and Feet Diagnosed as Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease) Who Was Treated with Korean Medicine (유전운동감각신경병(샤르코-마리-투스병)으로 진단된 환자의 수족부 감각장애에 대한 한방 치험 1례)

  • Jeon, Gyeong-ryung;Cho, Jun-ho;Jeong, Taek-su;Lim, Bo-ra;Park, Jin-seo;Lee, Yu-jin;Jeong, Yun-kyeong
    • The Journal of Internal Korean Medicine
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    • v.39 no.5
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    • pp.1023-1031
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    • 2018
  • Objectives: The purpose of this study is to evaluate the effect of Korean medicine in a patient with sensory disturbance of the hands and feet diagnosed as hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Methods: A patient diagnosed with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) was treated with herbal medicine (Uchashinki-hwan-gami, Bosinji Granule, Ukgan-san-gami), acupuncture, moxibustion, and bee venom pharmacopuncture. Clinical improvements were evaluated using the numerical rating scale (NRS) and Toronto Clinical Neuropathy Score system (TCNSS). Results: Improvements in the total scores of NRS and TCNS were observed after Korean medicine treatments. NRS score decrease from 8 to 2, and TCNS score decreased from 10 to 7. Conclusion: Korean medicine treatment may be effective for sensory disturbance in hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).

Genetics of Hereditary Peripheral Neuropathies (유전성 말초신경병의 유전학)

  • Cho, Sun-Young;Choi, Byung-Ok
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.25-37
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    • 2009
  • Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into several subtypes. Here, we review the most recent findings in the molecular diagnosis and therapeutic strategy for hereditary peripheral neuropathies. The products of genes associated with hereditary peripheral neuropathy phenotypes are important for neuronal structure maintenance, axonal transport, nerve signal transduction, and functions related to the cellular integrity. Identifying the molecular basis of hereditary peripheral neuropathy and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, as well as the processes involved in the normal development and function of the peripheral nervous system. These advances and the better understanding of the pathogenesis of peripheral neuropathies represent a challenge for the diagnoses and managements of hereditary peripheral neuropathy patients in developing future supportive and curative therapies.

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Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department

  • Kim, Changho;Park, Jin-Sung
    • Journal of Yeungnam Medical Science
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    • v.37 no.4
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    • pp.341-344
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    • 2020
  • Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

DNA diagnostic testing in hereditary motor and sensory neuropathies (유전성 운동 및 감각 신경병의 DNA 진단 검사)

  • Choi, Byung-Ok
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.115-121
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    • 2007
  • Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Using positional cloning methods, the chromosomal localization (locus) of more than 40 inherited peripheral neuropathies was found in the last 15 years. However, these genetic analyses also show that many entities do not show linkage to the known loci. This issue deals with a clinical survey of inherited peripheral neuropathies regarding diagnostic approaches based on the molecular findings.

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Analyzing clinical and genetic aspects of axonal Charcot-Marie-Tooth disease

  • Kwon, Hye Mi;Choi, Byung-Ok
    • Journal of Genetic Medicine
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    • v.18 no.2
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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.

Consideration of the Son-Bal Jeorim in oriental and western medicine (손발저림의 원인(原因)에 대(對)한 동서의학적(東西醫學的) 고찰(考察))

  • Park, Chi Young;Lim, Lark cheol;Kim, Young Il;Hong, Kwon Eui
    • Journal of Haehwa Medicine
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    • v.13 no.1
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    • pp.47-59
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    • 2004
  • Objectives & Methods: We investigated 28 books to study etiology and pathology of Son-Bal Jeorim. Result and Conclusion 1. The eiology of Son-Bal Jeorim is same as it of Bee Jeung(痺症). 2. Generally speaking, the cause of Bee Jeung was distributed Wind(風), Coldness(寒), Wetness (濕) of meridian. Bee Jeung can be devided into SilBi(實痺) and HeoBi(虛痺). In SilBi(實痺) there are PungHanSeupBi(風寒濕痺) and YeolBi(熱痺). In HeoBi(虛痺), there are GiHyeolHeoBi(氣血虛痺), EumheoBi(陰虛痺) and YangHeoBi(陽虛痺). 3. Son-Bal Jeorim belong to peripheral neuropathy in western medicine. 4. Syndrome of acute motor paralysis with variable disturbance of sensory and autonomic function, subacute sensorymotor paralysis, syndrome of chronic sensorimotor polyneuropathy, neuropathy with mitochondrial disease, syndrome of mononeuropathy or nerve plexusopathy. 5. Peripheral neuropathy is caused by carpal tunnel syndrome, diabetic neuropathy, uremic neuropathy, hepatic neuropathy, hypothyroid neuropathy, hyperthyroid neuropathy, neuropathy due to malnutrition, neuropathy due to toxic material, neuropathy due to drug, paraneoplastic neuropathy, hereditary neuropathy, etc. 6. Cerebral apoplexy, myelopathy, peripheral circulatory disturbance, anxiety syndrome cause symptoms of peripheral neuropathy

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Clinical and Electrophysiological Features of HNPP Patients with 17p11.2 Deletion (염색체 17p11.2 유전자 결손을 동반한 유전성 압박마비 편향 신경병증의 임상적, 전기생리학적 특성)

  • Hong, Yoon-Ho;Kim, Manho;Sung, Jung-Joon;Kim, Sung Hun;Lee, Kwang-Woo
    • Annals of Clinical Neurophysiology
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    • v.4 no.2
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    • pp.125-132
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    • 2002
  • Objectives : Although the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) is important for correct prognostic evaluation and genetic counseling, the diagnosis is frequently missed or delayed. Our main aim on undertaking this study was to characterize the electrodiagnostic features of HNPP. Material and Methods : Clinical, electrophysiologic and molecular studies were performed on Korean HNPP patients with 17p11.2 deletion. The results of electrophysiologic studies were compared with those of Charcot-Marie-Tooth disease type 1A (CMT1A) patients carrying 17p11.2 duplication. Results : Eight HNPP (50 motor, 39 sensory nerves) and six CMT1A (28 motor, 16 sensory nerves) patients were included. The slowing of sensory conduction in nearly all nerves and the distal accentuation of motor conduction abnormalities are the main features of background polyneuropathy in HNPP. In contrast to CMT1A, where severity of nerve conduction slowing was not different among nerve groups, HNPP sensory nerve conduction was more slowed in the median and ulnar nerves than in the sural nerve (p<0.01), and DML was more prolonged in the median nerve than in the other motor nerves (p<0.01). TLIs were significantly lower in HNPP than in the normal control and CMT1A patients for the median and ulnar nerves (p<0.01), and were also significantly reduced for the peroneal nerve (p<0.05) compared with those of the normal controls. Conclusion : The distribution and severity of the background electrophysiologic abnormalities are closely related to the topography of common entrapment or compression sites, which suggests the possible pathogenetic role of subclinical pressure injury at these sites in the development of the distinct background polyneuropathy in HNPP.

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Diagnosis and treatment in Charcot-Marie-Tooth disease (샤르코-마리-투스 질환의 진단 및 치료)

  • Kim, Sang-Beom;Park, Kee Duk;Choi, Byung-Ok
    • Annals of Clinical Neurophysiology
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    • v.7 no.2
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    • pp.65-74
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    • 2005
  • Charcot-Marie-Tooth (CMT) disease was described by Charcot and Marie in France and, independently, by Tooth in England in 1886. CMT is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Therefore, many genes have been identified as CMT-causative genes. Traditionally, subclassification of CMT have been divided into autosomal dominant inherited demyelinating (CMT1) and axonal (CMT2) neuropathies, X-linked neuropathy (CMTX), and autosomal recessive inherited neuropathy (CMT4). Recently, intermediate type (CMT-Int) with NCVs between CMT1 and CMT2 is considered as a CMT type. There are several related peripheral neuropathies, such as $D{\acute{e}}j{\acute{e}}rine$-Sottas neuropathy (DSN), congenital hypomyelination (CH), hereditary neuropathy with liability to pressure palsies (HNPP) and giant axonal neuropathy (GAN). Great advances have been made in understanding the molecular basis of CMT, and 17 distinct genetic causes of CMT have been identified. The number of newly discovered mutations and identified genetic loci is rapidly increasing, and this expanding list has proved challenging for physicians trying to keep up with the field. Identifying the genetic cause of inherited neuropathies is often important to determine at risk family members as well as diagnose the patient. In addition, the encouraging studies have been published on rational potential therapies for the CMT1A. Now, we develop a model of how the various genes may interact in the pathogenesis of CMT disorder.

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Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller

  • Ryu, Ho-Sung;Lee, Yun-Jeong;Lee, Jong-Mok
    • Journal of Genetic Medicine
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    • v.17 no.2
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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.

Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

  • Kanwal, Sumaira;Choi, Byung-Ok;Kim, Sang-Beom;Koo, Hea-Soo;Kim, Jee-Young;Hyun, Young-Se;Lee, Hye-Jin;Chung, Ki-Wha
    • Animal cells and systems
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    • v.15 no.4
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    • pp.301-309
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    • 2011
  • Charcot-Marie-Tooth disease (CMT) is clinically heterogeneous hereditary motor and sensory neuropathies with genetic heterogeneity, age-dependent penetrance, and variable expressivity. Rare copy number variations by nonrecurrent rearrangements have recently been suggested to be associated with Charcot-Marie-Tooth 1A (CMT1A) neuropathy. In our previous study, we found three Korean CMT1A families with rare copy number variations (CNVs) on 17p12 by nonrecurrent rearrangement. Careful clinical examinations were performed in all the affected individuals with rare CNVs (n=19), which may be the first full study of a subject from a large CMT1A family with nonrecurrent rearrangement. The clinical phenotype showed no significant difference compared with common CMT1A patients, but with variable phenotypes. In particular, a broad intrafamilial phenotypic spectrum was observed within the same family, which may suggest the existence of a genetic modifier. This study may broaden the understanding of the role of CNVs in the pathogenesis of CMT.