About: Mitochondrial DNA depletion syndrome

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Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived into adulthood with the SUCLA2 encephalomyopathic variant. There is currently no curative treatment for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms.

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rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disorder114052403 yago:PhysicalCondition114034177 disease yago:State100024720
rdfs:label	متلازمة نقص الحمض النووي المتقدري (ar) Mitochondriales DNA-Depletionssyndrom (de) Síndrome de depleción de ADN mitocondrial (es) Sindrome da deplezione del DNA mitocondriale (it) Mitochondrial DNA depletion syndrome (en) ミトコンドリアDNA枯渇症候群 (ja)
rdfs:comment	متلازمة نقص الحمض النووي المتقدري (MDSأوMDDS/ إم دي دي إس أو إم دي إس) هي أحد الاضطرابات الصبغية الجسدية المتنحية تسبب نقصًا في الحمض النووي (DNA/دنا) للمقتدرات في النسيج المصاب. يمكن أن تكون الأعراض مزيجًا بين اعتلال عضلي واعتلال كبدي واعتلال دماغي عضلي. تؤثر هذه المتلازمة على نسيج العضلات والكبد أو كل من الدماغ والعضلات على التوالي. تعتبر هذه المتلازمة مُميتة إما خلال الحمل أو في مرحلة الطفولة الباكرة على الرغم من تسجيل حالات بقيت على قيد الحياة حتى سن المراهقة في النمط العضلي من المرض والبعض حتى سن البلوغ في النمط الدماغي العضلي منه. في الوقت الحالي لا يوجد أي علاج شافٍ لأي نمط من أنماط المتلازمة، على الرغم من أن بعض العلاجات الأولية أظهرت تراجعًا واضحًا في الأعراض. (ar) Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived into adulthood with the SUCLA2 encephalomyopathic variant. There is currently no curative treatment for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms. (en) ミトコンドリアDNA枯渇症候群（みとこんどりあでぃーえぬえーこかつしょうこうぐん、英：Mitochondrial DNA depletion syndrome、略称：MDSまたはMDDS）は、発症組織でミトコンドリアDNA（以後mtDNAと略記）の大幅な減少を引き起こす、常染色体で劣性遺伝する遺伝子疾患の総称である。症状としては、筋障害、肝障害、がある。これらの症状は筋肉、肝臓、または筋肉と脳の両方の組織でそれぞれ発症する。この症候群は乳幼児期では通常致死的だが、ミオパシー性変異で10代まで生存した例が数件、の脳筋症変異で成人まで生存した例が数件ある。2012年時点でこの症候群のどの病型も有効な治療法が存在しないが、いくつかの前処置は症状を軽減した。 (ja) Mitochondriales DNA-Depletionssyndrom (MDS) bezeichnet das klinische Bild einer Erkrankung, bei der die Zahl an Kopien von mitochondrialer DNA (mtDNA) in den Mitochondrien der Zellen betroffener Gewebe stark vermindert ist. Daneben kann ein verringerter Gehalt an mtDNA auch sekundär verursacht sein durch eine sporadische Einschlusskörpermyositis oder iatrogen infolge einer Behandlung mit Nukleosidanaloga. (de) Síndrome de Agotamiento de ADN Mitocondrial (MDS -Mitochondrial DNA depletion Syndrome- por sus siglas en inglés), hace referencia a un grupo de enfermedades que causan un significativo desgaste del ADN mitocondrial en los tejidos afectados. Los síntomas pueden manifestarse como miopáticos, hepatopáticos, y/o encefalomiopáticos. Estos síndromes afectan a los tejidos de los músculos, hígado o múscul temprana, aunque algunos afectados han sobrevivido hasta la adolescencia con la variante miopática y algunos han sobrevivido hasta la edad adulta con la variante encefalomiopática, SUCLA2 (succinate-CoA Ligase ADP-forming, subunidad-beta), si coexiste afectación cerebral y muscular Actualmente no existe ningún tratamiento curativo para ninguna de las variantes del MDS, aunque algunos tratam (es) La sindrome da deplezione del DNA mitocondriale (sigle inglesi: MDS o MDDS) è la denominazione di un gruppo di disordini autonomici recessivi che causa un calo significativo di DNA mitocondriale nei tessuti colpiti. I sintomi possono essere una combinazione di miopatia, epatopatia, o encefalopatia. Queste sindromi colpiscono rispettivamente il tessuto del muscolo, del fegato, o sia del muscolo che del cervello. Il disturbo solitamente risulta fatale durante l'infanzia o la prima infanzia, nonostante alcuni malati siano sopravvissuti oltre l'adolescenza con la variante miopatica ed altri siano sopravvissuti fino all'età adulta con la variante encefalopatica SUCLA2. Al momento non ci sono cure per nessuna forma di MDDS, nonostante alcuni trattamenti preliminari abbiano mostrato una riduzione (it)
foaf:name	Mitochondrial DNA depletion syndrome (en)
name	Mitochondrial DNA depletion syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Mitochondrial diseases Rare syndromes
Wikipage page ID	42392931 (xsd:integer)
Wikipage revision ID	1120897966 (xsd:integer)
Link from a Wikipage to another Wikipage	Pyrophosphate Scoliosis Encephalopathy Epilepsia partialis continua Epilepsy FBXL4 Motor skill Mutation Dementia Peripheral neuropathy Ribonucleotide reductase DNA Visual impairment Kyphosis MPV17 Nystagmus Gastrointestinal physiology Genetic disorder Navajo RRM2B Epilepsy Gastroesophageal reflux disease Mitochondrion Cornea Lactic acidosis TP53 Autosomal recessive disorders Liver Chorea Deoxyribonucleotide Medical test SUCLA2 DGUOK Hearing loss Dystonia ECGF1 Faroe Islands Cell nucleus Mitochondrial diseases Failure to thrive Founder effect Psychomotor learning Rare syndromes Athetosis Tetraplegia Hypotonia Charlie Gard case Lactic acid Missense mutation Mitochondrial DNA Dominance (genetics) Physical therapy Thymidine kinase 2, mitochondrial Intellectual disability Optic nerve Ataxin 8 Liver disease Liver failure Ribonucleoside SUCLG1 Myopathy POLG ECGF1 TK2
sameAs	Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome

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