• Journal of Life Science
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• v.24 no.3
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• pp.311-317
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• 2014

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy 2 is an autosomal recessive muscular disorder characterized by early adult-onset weakness of distal muscles and rimmed vacuoles in muscle biopsy. Mutations in the UDP-N-acetylglucosamine 2-epimerase/N-ace-tylmannosamine kinase (GNE) gene are associated with the development of DMRV. In this study, whole exome sequencing (WES) revealed compound heterozygous GNE mutations of p.Asp176Val and p.Val572Leu in a patient with distal limb weakness. Three hundred healthy controls did not show these mutations. All other variants found in distal myopathy-relevant genes were polymorphic. These findings confirmed that the patient had DMRV. This work underscores the usefulness of WES in improving the molecular diagnosis of myopathy.

• Korean Journal of Poultry Science
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• v.30 no.1
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• pp.55-59
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• 2003

A necrotizing skeletal myopathy was diagnosed in three flocks of 30,000 thirty-eight-week-old layer breeder chickens. The mortality attributed to the myopathy was 17.7%, 12.3% and 21.1% in flock A, B and C, respectively. Clinically, chickens were showed depression, anorexia, posterior paresis, inability to rise, incoordination, reluctance to move, and leg trembling and weakness. The most striking findings at necropsy was pale streaking in the muscles of the thighs and legs. Microscopic lesions included myofiber degeneration and necrosis with massive cellular proliferation interpreted as sarcolemmal nuclei proliferation. Plasma creatine kinase, asparte aminotransferase and akaline phosphatase were markedly elevated. In conclusion, author suggested that submitted chickens were affected by ionophores poisoning.

• Journal of Genetic Medicine
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• v.13 no.1
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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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• v.8 no.1
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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.

• The Journal of Churna Manual Medicine for Spine and Nerves
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• v.2 no.1
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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.

• Herbal Formula Science
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• v.24 no.3
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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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• v.14 no.1
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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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• v.3 no.1
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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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• v.3 no.1
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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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• v.11 no.2
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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.