• 대한족부족관절학회지
• /
• 제5권2호
• /
• pp.165-169
• /
• 2001

Cavovarus deformities of both feet in 28 years old female patient with Charcot-Marie-Tooth disease were treated by one-staged pantalar arthrodesis. Excellent results were achieved at 6 years after surgery. She could walk without brace or stick and she was satisfied with the result of one-staged pantalar arthrodesis. One-stage pantalar arthrodesis is an effective method of treatment for cavovarus deformity of foot in Charcot-Marie-Tooth disease.

• Journal of Acupuncture Research
• /
• 제31권4호
• /
• pp.173-183
• /
• 2014

Objectives : The purpose of this study is to report the effect of Korean Medicine treatment on a patient with Charcot-Marie-Tooth disease. Methods : A 60-year-old woman who was diagnosed as Charcot-Marie-Tooth disease was admitted with both lower and upper limbs weakness, difficulty in walking, palm pain and neck pain. The patient was treated with acupuncture, electroacupuncture, herbal medicine, cupping therapy and physical treatment from 2th September 2013 to 14th November 2013. Improvement of the patient's symptoms was evaluated by numeric rating scale(NRS), visual analog scale(VAS), SF-36 bodily pain and patient global assessment(PGA). Results : After treatment, pain Intensity evaluated by VAS was significantly decreased(from 7.2 to 2). Increased SF-36 bodily pain score(from 10 to 67.5) showed that patient's quality of life has been improved. Conclusions : These results suggest that Korean medicine treatment may be effective in reducing the symptoms of Charcot-Marie-Tooth disease.

• 대한한방내과학회지
• /
• 제39권5호
• /
• pp.1023-1031
• /
• 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).

• Journal of Korean Neurosurgical Society
• /
• 제57권4호
• /
• pp.295-297
• /
• 2015

We report the case of 57-year-old woman diagnosed with Charcot-Marie-Tooth (CMT) disease and lumbar disk herniation (LDH). She had left leg weakness and foot numbness, foot deformity (muscle atrophy, high arch, and clawed toes). The lumbar spine MRI showed LDH at L4-5. Additionally, electrophysiology results were consistent with chronic peripheral motor-sensory polyneuropathy (axonopathy). In genetic testing, 17p11.2-p12 duplication/deletions characteristic of CMT disease were observed. We confirmed the patient's diagnosis as CMT disease and used conservative treatment.

• Journal of Genetic Medicine
• /
• 제4권2호
• /
• pp.115-121
• /
• 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.

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

• Annals of Clinical Neurophysiology
• /
• 제21권1호
• /
• pp.57-60
• /
• 2019

Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.

• 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.

• Animal cells and systems
• /
• 제15권4호
• /
• pp.301-309
• /
• 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.

• 척추신경추나의학회지
• /
• 제10권1호
• /
• pp.87-95
• /
• 2015

Background : Charcot Marie Tooth disease can cause muscle weakness and foot deformity. Ankle pain induced by foot deformity affect patients' gait pattern and quality of life. Objectives : The purpose of this study is to evaluate the traditional Korean medicine treatment for ankle pain induced with Charcot-Marie Tooth Disease, especially Chuna manual therapy on ankle joints. Methods : One patient was treated with acupuncture, phamacopuncture, herbal medication and chuna manual therapy on ankle joints. To evaluate the pain of ankle, lower back and lower extremity, visual analog scale(VAS) was measured. Results : After treatment for 5 week, the pain of ankle joint was declined from VAS 6 to VAS 2. Conclusions : Traditional Korean medicine treatment including acupuncture, pharmacopuncture, herbal medication and Chuna manual therapy is effective for ankle pain with foot deformity. But further studies are required to prove the effectiveness of Chuna manual therapy on ankle joints.