• Title/Summary/Keyword: Myopathy

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Equine Polysaccharide Storage Myopathy in an American Paint Horse (American Paint Horse에서의 다당류저장성근질환)

  • Yong, Hwan-Yul;Kim, Dae-Young
    • Journal of Veterinary Clinics
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    • v.23 no.4
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    • pp.469-471
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    • 2006
  • A 4-year-old, American Paint horse gelding with recurrent episodes of exertional rhabdomyolysis was diagnosed with equine polysaccharide storage myopathy (EPSSM). The common clinical signs were muscle weakness, loss of muscle mass, exercise intolerance, difficulty holding up limbs for farrier, sensitivity of grooming, cramping with reluctance to move and the inability to rise. Through histological examination of skeletal muscle specimens, this case was confirmed of EPSSM.

Fine Structure and Immunogoldlabeling of Crystalline Inclusion Bodies in Mitochondria (미토콘드리아내 결정함유물의 미세구조 및 면액황금표식법)

  • ;;R.A. Capaldi
    • The Korean Journal of Zoology
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    • v.31 no.1
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    • pp.62-70
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    • 1988
  • The distribution of respiratory chain complexes in beef heart and human muscle mitochondria has been explored by immunoeledron microscopy with antibodies made against beef heart mltochondriai proteins in conjundion with protein A cofloidai gold (l2nm particles). The antibodies used were made against NADH-conezyme Q reductase(complex I), ubiquinol-cytochrome-c-oxldoreductase (complex III) and cytochrome-c-oxidase(complex IV). Labeling of bed heart tissue with any of these antihodies gave gold particles randomly distributed along the mitochondrial inner membrane. The labeling of muscle tIssue mitochondria from a patient with a mitochondrial myopathy localized by biochemical analysis to complex III was quantitated and compared with the labeling of human control muscle tissue mitochondria. Four kinds of morphological changes in the mitochondrial fine strudure in the myopathy patient tissue have been found; paracrystalline inclusions consistIng of densely packed multi- lamellar structures, globular crystalline inclusions with high electron density, multilamellar strudure inclusion body(compadly and irregularly arranged concentric whirl shaped cristae)and golbular cyrstalilne inclusions located in the center of the whirl shaped cristae. Compex I and cytochrome-c-oxldase antihodies reacted to the same level in the mitochondria containing the crystalline inclusions and control mitochondria. Antibodies to complex III reacted very poorly to the mitochondria containing the crystalline Inclusions but strongly to control mitchondria. The globular crystalline inclusions in the mitochondria are not reacted antibodies to respiratory chain complexes.

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A Case of Mitochondrial Myopathy Showing Severe Hypoxemia during REM Sleep (렘수면중 심한 저산소혈증을 보인 사립체근병증 1례)

  • Kim, Ju-Sang;Kim, Sung-Kyung;Lee, Sang-Haak;Ahn, Joong-Hyun;Kim, Chi-Hong;Moon, Hwa-Sik
    • Sleep Medicine and Psychophysiology
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    • v.14 no.1
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    • pp.49-53
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    • 2007
  • Mitochondrial myopathy is characterized by variable clinical manifestations from mild limb weakness to fatal respiratory failure and central nervous system sequela. But it is a rare event that sleep disordered breathing become a clue of diagnosis for mitochondrial myopathy. We report a case of a 21 year-old man who was diagnosed as mitochondrial myopathy during the investigation for the possible cause of chronic hypoventilation syndrome. Before being admitted to our hospital, he was suspected as having sleep apnea syndrome in another hospital. We re-evaluated the history, physical examination, laboratoy findings and polysomnography in detail. Severe hypoxemia was noted during REM sleep on nocturnal polysomnography and the diagnosis of mitochondrial myopathy was made by muscle biopsy in rectus abdominis muscle. We treated him with bilevel positive airway pressure therapy during sleep and it could reverse the hypoxemia during REM sleep. He could be discharged with improved condition and is being well with the use of this ventilatory assistance.

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Familial congenital myopathy with prominent decremental responses in repetitive nerve stimulation testing

  • Kim, Dayoung;Sunwoo, Il Nam;Oh, Jeeyoung
    • Annals of Clinical Neurophysiology
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    • v.23 no.1
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    • pp.53-55
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    • 2021
  • Congenital myasthenic syndromes (CMSs) are rare genetic disorders characterized by weakness and fatigue resulting from impaired neuromuscular transmission. Genetic testing can confirm the diagnosis for some types of CMS; however, variations in genotype, clinical phenotypes, age at disease onset, and responses to treatment make diagnosis very difficult. Here we present two adult patients who had significant decremental responses in repetitive nerve stimulation testing and multi-minicore pathology, and who responded to treatment with a cholinesterase inhibitor.

X-linked recessive myotubular myopathy with MTM1 mutations

  • Han, Young-Mi;Kwon, Kyoung-Ah;Lee, Yun-Jin;Nam, Sang-Ook;Park, Kyung-Hee;Byun, Shin-Yun;Kim, Gu-Hwan;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.56 no.3
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    • pp.139-142
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    • 2013
  • X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.

Video-assisted Diaphragm Plication in Children with Diaphragm Eventration Associated with Congenital Myopathy - Report of 2 Cases - (선천성 근질환을 가진 횡격막 내장탈출 환아에서의 흉강경을 이용한 주름성형술 -2예 보고 -)

  • Lee Jae-Hang;Kim Young-Tae;Kim Joo-Hyun;Kang Chang-Hyun
    • Journal of Chest Surgery
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    • v.39 no.9 s.266
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    • pp.725-728
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    • 2006
  • A six-month old boy and a thirty-month old girl who suffered from dyspnea were admitted to our hospital. Their primary disease was congenital myopathy, and both of them had a history of recurrent pneumonia. Chest X-ray scan showed unilateral diaphragmatic eventration. To minimize the injury of weakened respiratory muscle in children with myopathy, VATS plication was performed under double lung ventilation. Each of the two patients were discharged on the 17th and 24th postoperative day. We report two cases of successful VATS plication in children with diaphragmatic eventration associated with congenital myopathy.

A Patient with Mitochondrial Myopathy who Experienced Diabetic Ketoacidosis with Auto-antibody (사립체 근병증 환자에서 발생한 자가항체 양성의 당뇨병성 케톤산증 1례)

  • Nam, Soon Young;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.191-194
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    • 2014
  • Mitochondrial myopathy results from a primary dysfunction of the respiratory chain and is frequently accompanied with endocrine manifestations. Among the endocrine manifestations of mitochondrial disease, diabetes mellitus is relatively common. Diabetes mellitus in the mitochondrial myopathy is usually insulin dependent due to the defect in insulin secretion resulted from mitochondrial dysfunction. But it is seldom manifested as diabetes ketoacidosis and doesn't usually have an auto-antibody. We report a patient with mitochondrial myopathy who was diagnosed as having diabetes mellitus by presenting as diabetes ketoacidosis and had both of the auto-glutamic acid decarboxylase (GAD) antibody and anti-insulin auto-antibody.

Mitochondrial myopathies caused by prolonged use of telbivudine

  • Lee, Jong-Mok;Shin, Jin-Hong;Park, Young-Eun;Kim, Dae-Seong
    • Annals of Clinical Neurophysiology
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    • v.19 no.1
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    • pp.40-45
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    • 2017
  • Background: Telbivudine is a nucleoside analogue used for the treatment of chronic hepatitis B, but it often develops mitochondrial toxicity leading to symptomatic myopathy. In this study, three patients with telbivudine induced myopathy were enrolled in order to investigate the nature and pathogenesis of mitochondrial toxicity caused by long-term use of telbivudine. Methods: Clinical features, laboratory findings, muscle pathology, and quantitation of mitochondrial DNA were studied in three patients. Results: Patients presented with progressive muscle weakness with high serum creatine kinase levels. Light microscopic findings of muscle pathology showed ragged red fibers that reacted strongly with succinate dehydrogenase stain, but negative for cytochrome c oxidase activities. Electron microscopy revealed abnormal mitochondrial accumulation with rod shaped inclusions. The quantitative peroxidase chain reaction showed a depletion of mitochondrial DNA in skeletal muscle of the patients. Conclusions: Nucleoside analogues including telbivudine are potent inhibitors of viral DNA polymerases. However, they are not specific for viral DNA and can disturb mitochondrial replication at the same time. All nucleotide analogues should be used with close clinical observation in order to avoid development of mitochondrial myopathy.

Degenerative myopathy of the supracoracoideus (DMS) in turkeys and broiler chickens, Review (칠면조와 육계에서 청색증 발생기전에 관한 고찰)

  • Song, Hee-Jong;Lee, Myung-Woo;Ryu, Kyeong-Sun;Jang, Hyung-Kwan
    • Korean Journal of Veterinary Service
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    • v.31 no.1
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    • pp.161-166
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    • 2008
  • Deep pectoral myopathy (DPM), also known as Oregon muscle disease or green muscle disease, was first described in 1968 by Dickinson et al as "degenerative myopathy" in turkeys. Even though this condition was first recognized in adult meat-type turkey and chicken breeders, it is becoming more and more common in meat-type growing birds. DPM occurs exclusively in birds that have been specially selected for breast muscle development. It is generally recognized that DPM is an ischemic necrosis that develops in the deep pectoral muscle (supracoracoideus or pectoralis minor muscle) mainly because this muscle is surrounded by inelastic fascia and the sternum, which do not allow the muscle mass to swell in response to the physiological changes occurring when muscle are exercised, as in wing flapping. The lesion does not impair the general health of birds and is generally found during cut-up and deboning, moreover, it can be both unilateral or bilateral, affecting just one or both pectoralis minor muscle, respectively. No public health significance is associated to DPM, but it is aesthetically undesirable. The fillet should be removed, whereas the rest of the carcass is still fit for human consumption. However, the required trimming operations determine the downgrading of the products and produce an economic loss for the industry, especially because it affects the more valuable part of the carcass. The incidence of DPM increases with market weight in broilers, with more cases reported in higher-yielding strains and in males. Increased bird activity (flock nervousness, flightiness, struggle, and wing flapping) induced by factors such as feed or water outages, lighting programs and intensity, human activity, and excessive noises in and around chicken houses should be looked at as a trigger for the development of DPM in broiler. However, most of the studies conducted to evaluate the incidence of DPM in poultry are concerned with parental commercial breeding stocks under experimental conditions (Bianchi et al. 2006. Poult Sci 85 : 1843-1846). There is a possible genetic relationship between the selection for large-breasted birds and this condition. Management procedures that discourage excessive wing flapping would reduce the incidence (Jordan and Pattison. 1998. Poultry diseases. 398-399).