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MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy. MERRF syndrome affects different parts of the body, particularly the muscles and nervous system. The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence. The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA. The classification of this disease varies from patient to patient, since many individuals do not fall into one specific disease category. The primary features displayed on a person with MERRF include myoclonus, seizures, cerebellar ataxia, myopathy, and rag

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  • متلازمة مرف (ar)
  • MERRF-Syndrom (de)
  • Síndrome MERRF (es)
  • Sindrom MERRF (in)
  • Syndrome MERRF (fr)
  • Sindrome MERRF (it)
  • MERRF syndrome (en)
  • Zespół MERRF (pl)
  • Синдром MERRF (ru)
  • Síndrome MERRF (pt)
  • 肌抽躍癲癇合併紅色襤褸肌纖維症 (zh)
rdfs:comment
  • El síndrome de epilepsia mioclónica asociada a fibras rojas rasgadas, denominado abreviadamente como síndrome MERRF por sus siglas en inglés (myoclonic epilepsy with ragged red fibers), es una rara enfermedad mitocondrial que cursa principalmente con mioclonias (sacudida repentina e involuntaria de un músculo o grupo de músculos) y epilepsia. (es)
  • Le syndrome MERRF, de l'anglais : Myoclonic Epilepsy with Ragged Red Fibers, est une maladie mitochondriale.C'est une épilepsie myoclonique associée à la myopathie des fibres rouges en haillons.Le syndrome se déclare durant l'enfance et perdure de nombreuses années. (fr)
  • Per Sindrome MERRF (o epilessia mioclonica con fibre rosse raggrinzite) in campo medico si intende un quadro clinico complesso da difetto mitocondriale. È estremamente rara, con una prevalenza stimata di 1 / 400.000 nell'Europa settentrionale e ha diversi gradi di espressività a causa dell'eteroplasmia. (it)
  • Zespół MERRF (ang. Myoclonic Epilepsy with Ragged Red Fibers - padaczka miokloniczna z czerwonymi poszarpanymi włóknami) – choroba mitochondrialna. Postać sporadyczna lub uwarunkowana genetycznie. (pl)
  • A epilepsia mioclônica com fibras rotas vermelhas, também conhecida como síndrome MERRF (do inglês: Myoclonic Epilepsy with Ragged Red Fibers) é uma doença mitocondrial que provoca alterações do metabolismo energético celular e atinge tanto homens como mulheres. Promove o desequilíbrio entre a necessidade de energia e a eficiência da oxidação e fosforilação da fibra muscular e também atinge o sistema nervoso central. (pt)
  • 肌抽躍癲癇合併紅色襤褸肌纖維症，簡稱MERRF症候群(Myoclonic Epilepsy with Ragged Red Fibers Syndrome)，是一種罕見粒線體遺傳疾病，在患病機率約是10萬人中有1.5人，根據粒線體中的表現程度不同，病情的嚴重程度也會不同。中文譯名亦譯作肌陣攣性癲癇發作伴破碎紅纖維病變。 (zh)
  • Синдром MERRF (англ. Myoclonic Epilepsy with Ragged Red Fibers, миоклоническая эпилепсия с рваными мышечными волокнами) — редкое митохондриальное заболевание, вызываемое мутациями в следующих генах: , MTTL1, , , , MTTF. Симптомы MERRF также проявляются при мутациях гена . (ru)
  • متلازمة مرف (بالإنجليزية: MERRF -Syndrom)‏ وهو اختصار لـ (myoclonic epilepsy with ragged red fiber) الذي يعني الصرع الرمعي العضلي مع الألياف الحمراء المتجعدة هو مرض ينتمي إلى مجموعة الاعتلالات العضلية المتربطة بالميتوكندريا. من أعراض المتلازمة التشنج العضلي الرمعي ونوبات الصرع والترنح المرتبط بالمخيخ، ويمكن مشاهدة تغييرات مجهرية مرئية في العضلات تدعى بالألياف الحمراء المتجعدة. السبب في نشوء المتلازمة هو طفرة وراثية من ناحية الأم في الموقع 8344 (الطفرة الأكثر شيوعاً بمعدل 80 % من الحالات) من الشفرة الوراثية للميتوكوندريا (بيت الطاقة). (ar)
  • Das MERRF-Syndrom (von engl. myoclonic epilepsy with ragged red fiber) ist eine Krankheit, die zu der Gruppe der mitochondrialen Myopathien gerechnet wird. Das Syndrom äußert sich in einer klonischen Muskelspastik, epileptischen Anfällen, Kleinhirn-Ataxie und in mikroskopisch sichtbaren Veränderungen an der Muskulatur, genannt ragged red fibers (RRF, zu deutsch zottige rote Fasern). Die Behandlung ist symptomorientiert mit Antiepileptika und Muskelrelaxantien; Heilung ist bisher nicht möglich. (de)
  • MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy. MERRF syndrome affects different parts of the body, particularly the muscles and nervous system. The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence. The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA. The classification of this disease varies from patient to patient, since many individuals do not fall into one specific disease category. The primary features displayed on a person with MERRF include myoclonus, seizures, cerebellar ataxia, myopathy, and rag (en)
  • Sindrom MERRF atau (Inggris: Myclonic Epilepsy with Ragged Red Fibers, atau secara harafiah berarti Epilepsi Mioklonik dengan Serat-serat Merah Rusak), adalah sebuah dengan ciri-ciri sebagai berikut: * * Sekumpulan akumulasi mitokondria yang cedera pada daerah subsarkolemal pada serat oto dan terlihat seperti serta-serat merah ketika dibuat sediaan pewarnaan trikrom Gomori. * tinggu badan yang rendah (in)
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  • MERRF syndrome (en)
name
  • MERRF syndrome (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Mitochondrial.svg
  • http://commons.wikimedia.org/wiki/Special:FilePath/Ragged_red_fibers_in_MELAS.jpg
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