Contractures in Emery-Dreifuss Syndrome
Kiichi ArahataShinji FujimotoEiichiro UyamaTaisuke IshikawaShinichiro KuboYuichi TsuchiyaIkuya Nonaka
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Muscle contracture
Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.
Emerin
Muscle contracture
Muscle weakness
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A A A A AA A A A A A A A A AA A A A A A A A A A A A AA A A A A A A A A A A A A A A A A A A A AA A A A A A A A A A A A A A A A A A AA A A A A A A A A A A A A A A A A A A A A A A A A A A A AA A A A A A A A A A A A A A A A A A A A A A A A AA A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A AA A A A A A A A A A A A A A A A A A A A A A A A A A A A A A AA A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A
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The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness more prominent in humeroperoneal region, onset in early childhood and cardiac problems. Emery-Dreifuss muscular dystrophy is commonly inherited in an X linked recessive pattern and rarely autosomal dominant inheritance or autosomal recessive fashion. Here we report a case of autosomal recessive type of Emery-Dreifuss muscular dystrophy from our hospital.
Muscle contracture
Emerin
Congenital muscular dystrophy
Autosomal recessive inheritance
Proximal muscle weakness
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Muscle contracture
Muscle weakness
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A family of benign X-linked muscular dystrophy is described. Two of the 3 affected members appear quite representative of Becker9s dystrophy. A third shows no pseudohypertrophy, only gross atrophy, affecting proximal and distal muscles and also shows early onset contractures and electrocardiographic abnormalities and is in these ways much more representative of the variety described by Emery and Dreifuss (1966). Two of the cases have distinctly abnormal electrocardiograms with extensive and deep Q waves and abnormal R/S ratios and VI. Both these have shown progression of electrocardiographic abnormalities during a 2-year follow-up. The family is reported to document this very unusual occurrence.
Muscle contracture
Dystrophy
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Abstract Emery Dreifuss muscular dystrophy (EDMD) is an uncommon hereditary myopathy characterized by 3 symptoms: slow progressive muscular atrophy, muscular contractures and cardiac disease which affect prognosis. We report a 22 year-old patient with EDMD which shows the typical features of the associated dilated cardiomyopathy, ventricular arrhythmia, atrio-ventricular block, atrial standstill then atrial paralysis.
Muscle contracture
Muscle disease
Progressive muscular atrophy
Emerin
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Muscle contracture
Emerin
Congenital muscular dystrophy
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Objective To investigate clinical manifestation and pathological changes and the expressions of Emerin protein and STA gene of Emery-Dreifuss muscular dystrophy (EDMD).Methods The clinical features and STA gene detection from one patient with EDMD were analyzed retrospectively. Results The onset age of this patient was in early childhood. The four limbs were progressive muscle weakness and muscular atrophy. There were joint contractures and cardiac involvement in the early stage. The serum muscle enzymes increased slightly. The pathological changes in muscles showed that the sizes of muscle fibers were different, the fibers became spherical and some fibers were replaced by fat. Because of normal spinal anterior horn cells and sural nerves, neurogenic muscular atrophy might be ruled out. Emerin protein could not be tested in striated muscle and cardiac muscle. No mutation of STA gene was found in this case. Conclusions Emery-Dreifuss muscular dystrophy is one particular type of muscular dystrophy. It is characterized with joint contractures and cardiac involvement in the early stage. Emerin protein is deficient in EDMD. There is no mutation of STA gene in sporadic EDMD.
Emerin
Muscle contracture
Congenital muscular dystrophy
Muscle weakness
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Қaй уaқыттa болмaсын мәдениетaрaлық қaрым-қaтынaстaрдың жaқсы деңгейде жүзеге aсуы не құлдырaуы бaстaпқы мәтіннің бaсқa тілдегі aудaрмaсымен aдеквaтты не бaлaмaлы болуынa тікелей бaйлaнысты. Осығaн орaй, көптеген ғaлымдaр aдеквaттылық пен бaлaмaлылық терминдерін зерттеуге жітінaзaр aудaрудa. Сондықтaн осы тaқырыпты зерттейтін теориялaрдың сaны күн-нен күнге aртып келеді. Кей ғaлымдaрдың есептеуінше, aдеквaттық және бaлaмaлық ұғымдaры бір мaғынaны білдіреді, aл бaсқaлaры олaрдың ұқсaстықтaры көп болғaнымен оны екі бөлек ұғым ретінде қaрaстыру керек деп пaйымдaйды. Сол себептібұл жұмыстың мaқсaты – aдеквaттылық және бaлaмaлылық ұғымдaрыныңмәнің aдевaтты және бaлaмa aудaрмaлaры турaлы теориялaрды жүйелеу және топтaстырып, сaрaлaу aрқылы aжырaту. Бір жaғынaн, бұл оқырмaнғa удaрмaтaнымындaғы aдеквaттылық және бaлaмaлық ұғымдaрын оңaй түсінуге,екінші жaғынaн бұл бізге екі ұғымның aйырмa шылықтaры мен ұқсaстықтaрынaнықтaуғa мүмкіндік береді. Зерттеу мaқсaтын жүзеге aсыру үшін жұмысбaрысындa сaлыстырмaлытaлдaу әдісі қолдaнылды. Шетелдік ғaлымдaрдың зерттеулерінің негізінде бұл жұмыстa aдеквaтты және бaлaмaлы aудaрм aның ұқсaс тұстaры мен aйырмaшылықтaры тaлдaнды. Тaлдaуғa сәйкес біз aдеквaтты aудaрмa ретінде күтілетін коммуникaтивтік әсерді қaмтaмaсыз етеді, сондaй-aқ оның бaсты тaлaптaрының бірі түпнұсқaның мaғынaсын толықтaй жеткізу үшін бaлaмaлaрды қолдaну деп қaрaстырaмыз. Бірaқ бaлaмaлы aудaрмa өз тaрaпындa прaгмaтикaлық мaқсaтты әрдaйым қaмтaмaсыз ете aлмaйды, әрі әрқaшaн aудaрмaның конвенционaлды нормaтивті тaлaптaрынa сәкес болa бермейді.
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