• 생명과학회지
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• 제24권3호
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• pp.311-317
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• 2014

Rimed vacuole을 가진 원위 근육병(distal myopathy with rimmed vacuoles, DMRV)은 제2형 유전성 봉입체 근육병으로도 불리며 초기 성인기에 발병하여 원위부의 근력약화를 보이는 임상양상과 rimmed vacuole의 근육병리소견을 특징으로 하는 상염색체 열성의 근육병이다. 이러한 DMRV의 원인은 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) 유전자의 돌연변이임이 밝혀져 있다. 저자들은 원위부 근력약화를 호소하는 환자에서 전체 엑솜 염기서열분석을 이용하여 GNE 유전자의 복합 이형접합성 돌연변이(p.Asp176Val 및 p.Val572Leu)를 확인하여 DMRV를 진단할 수 있었다. 본 연구는 근육병의 정확한 분자진단에 있어서 전체 엑솜 염기서열분석의 유용성을 보여주었기에 이를 보고하는 바이다.

• 한국가금학회지
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• 제30권1호
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• pp.55-59
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• 2003

경기도 소재 산란종계 농장에서 심한 운동실조와 급격한 폐사율 증가 등의 임상증상이 발현되어 국립수의과학검역원 조류질병과에 38주령 닭 15수가 질병진단을 목적으로 의뢰되어 병리해부검사, 조직검사, 임상병리 검사를 실시한 결과 아래와 같은 결과를 얻을 수 있었다. 각 1만수씩 입식된 3개 계군의 폐사율은 17.7％(A동), 12.3％(B동), 21.1％(C동)이었으며 폐사 직전 닭들의 특이적인 임상증상으로는 침울, 식욕결핍, 다리마비, 기립불능 등이 관찰되었다. 병리해부검사상에서는 대퇴부와 다리부위 골격근의 변성과 괴사로 변색, 긴장도 상실, 연화 등이 확인되었다. 조직검사 결과 근섬유의 괴사와 함께 심한 염증세포의 침윤이 특징적인 괴사성 근증이 관찰되었다. 또한 혈청내 creatine kinase, asparte aminotransferase, akaline phosphatase 농도검사에서도 정상적인 조류의 범위보다 2배 이상 상승된 농도가 확인되어 간접적으로 괴사성 근증임을 확인할 수 있었다.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.51-54
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• 2016

Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally located nuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distal dominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies show a high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However, Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one of the most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and his daughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocular symptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.

• PNF and Movement
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• 제8권1호
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• pp.11-19
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• 2010

Purpose : The purpose of this study was to the effect of task-oriented arm movements and muscle enhancement program using elastic bands on limb muscle strength and activities of daily living of mitochondrial myopathy patient. Method : Single-subject experimental research design was applied to. AB Design was adopted. The study period was approximately four weeks. A baseline period of the three sessions of the experiment, the treatment period B, 3 sessions were conducted. Baseline period to observe the patient's daily life bardel index was measured as an independent feature, MMT as a limb muscle strength was assessed by measuring early. During the period of treatment with serabaendeu limb strength training 30 minutes after the break five minutes after the treatment using MMT limb muscle strength were evaluated. Task-oriented exercise program, and who exercise a week as a treatment was carried out in 30 minutes. Result : All of the scores for each sessional period of treatment when compared to base line and upper limb muscle strengthening exercises on the subjects that did not change significantly. Conclusion : If the muscles and nervous system involvement in patients with symptoms such as muscle weakness and paralysis of upper extremity functional use is difficult.

• 척추신경추나의학회지
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• 제2권1호
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• pp.59-67
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• 2007

Objective : Poly neuropathy is disease that reveals musle relaxation or sensory disorder, and Myopathy is disease that reveals musle weakness, wasting, pain. These diseases occur in the lower or upper limbs. This is the clinical report about Poly neuropathy or Myopathy estimated patients. Method : Patients were treated by acupuncture, herb medicine, bee venom herbal-acupuncture, moxibustion. We evaluated the improvement of symptoms with ROM(Range of Motion) and MCR(Medical Research Council) standard. Result : Symptoms that patients have at admission improved and disappered gradually with oriental medicine therapy. Observing the change of ROM and MCR standard, they indicated us improvement of disease. Conclusion : We achived a desirable result from treatment of peripheral neuropathy or myopathy estimated patients. However, further studies are required to prove the effect of oriental medicine treatment.

• 대한한의학방제학회지
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• 제24권3호
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• pp.153-161
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• 2016

Chronic alcoholic myopathy is one of the most common skeletal muscle disorders. It is characterized by a reduction in the entire skeletal musculature, skeletal muscle weakness, and difficulties in gait. Patients with alcoholic hepatitis and cirrhosis have severe muscle loss that contributes to worsening outcome. Although the myopathy selectively affects Type II (fast twitch, glycolytic, anaerobic) skeletal muscle fibers, total skeletal musculature is reduced. The severity of the muscle atrophy is proportional to the duration and amount of alcohol consumed and leads to decreased muscle strength. The mechanisms for the myopathy are generally unknown but it is not due to overt nutritional deficiency, nor due to either neuropathy or severe liver disease. Skeletal muscle mass and protein content are maintained by a balance between protein synthesis and breakdown and in vivo animal models studies have shown that ethanol inhibits skeletal muscle protein synthesis. Daekumeumja is a traditional Korean medicine that is widely employed to treat various alcohol-induced diseases. Muscle diseases are often related to liver diseases and conditions. The main objective of this study was to assess that Daekumeumja extract could have protective effect against alcoholic myopathy in a Sprague-Dawley rat model. Rats were orally given 25% ethanol (5ml/kg, body weight) for 8 weeks. After 30 minutes, rats were administrated with Daekumeumja extract. Controls were similarly administrated with the vehicle alone. The weights of gastrocnemius, soleus and plantaris muscles were assessed and the morphologic changes of gastrocnemius and plantaris muscles were also assessed by hematoxylin and eosin staining. In results, The muscles from ethanol treated rats displayed a significant reduction in muscle weight and average cross section area compared to Normal group. Daekumeumja extract treated group showed increased muscle weight and muscle fiber compared to the ethanol treated group. It was concluded that Daekumeumja extract showed ameliorating effects on chronic alcohol myopathy in skeletal muscle.

• Annals of Clinical Neurophysiology
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• 제14권1호
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• pp.36-40
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• 2012

Nephrogenic systemic fibrosis (NSF) is a systemic disease that affects the skin and other tissues in patients with renal insufficiency and exposure to gadolinium-containing contrast. A 55-year-old woman with end-stage renal disease on hemodialysis was consulted for progressive general weakness. After she had undergone multiple MRIs with gadolinium-containing contrast media, muscle weakness and skin lesions were developed. Her skin and muscle biopsy specimens showed CD34+ fibroblast entrapping collagen bundles. There are few reports of NSF with myopathy.

• Annals of Clinical Neurophysiology
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• 제3권1호
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• pp.50-52
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• 2001

Licorice is widely used as a Chinese(herbal) medicine. The glycyrrhizin, a main ingredient of the natural licorice, has a potent mineralocorticoid effect which may cause severe hypokalemia and muscle paralysis. We present a 60-year-old woman, who had been ingesting one or two spoonful of licorice powder daily for about one year, developed acute flaccid quadriparesis with high levels of serum muscle enzymes and the typical features of mineralocorticoid excess such as severe hypokalemia and metabolic alkalosis. Both plasma renin activity and serum aldosterone level were below the normal values. This case indicates that licorice-induced hypokalemic myopathy should be considered in the differential diagnosis of a patient with acute quadriparesis and hypokalemia.

• Annals of Clinical Neurophysiology
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• 제3권1호
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• pp.1-8
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• 2001

The distal myopathies(DM) are clinically defined as inherited or sporadic primary muscle disorders characterized by progressive muscular weakness and atrophy beginning in the hands or feet and pathologically by myopathic changes in skeletal muscles. The pathologic changes are somewhat similar to those seen in chronic muscular dystrophy, but necrotic and regenerative processes are less prominent and creatine kinase levels are either normal or only mildly elevated. The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inherited distal myopathy with rimmed vacuoles and distal muscular dystrophy(Miyoshi myopathy). At present, further study is necessary to determine why rimmed vacuoles are so common in the DM, and what role they play in the pathogenesis of muscle fiber atrophy and loss, predominantly in the distal portions of the extremities.

• Annals of Clinical Neurophysiology
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• 제11권2호
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• pp.59-63
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• 2009

Miyoshi myopathy (MM) is caused by the mutations of dysferlin gene (DYSF), which impairs the function of dysferlin protein causing muscle membrane dysfunction. We report a patient showing the MM phenotype who has a sister with LGMD 2B phenotype, along with the results of the immunohistochemical and molecular analyses of the DYSF gene. Immunohistochemical analysis noted negative immunoreactivity against dysferlin. Direct DNA sequencing of whole exons of DYSF gene revealed heterozygous nonsense mutations (c.610C>T + c.2494C>T). To our knowledge, this is the first reported MM case with this very combination of heterozygous mutations.