{"orpha":97240,"name":"Zebra body myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the <i>alpha-skeletal actin</i> (<i>ACTA1</i>) gene may be involved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97240/","orphanet_url":"https://www.orpha.net/en/disease/detail/97240","names":{"fr":{"name":"Myopathie à corps zébrés","definition":"La myopathie à corps zébré est une myopathie congénitale bénigne, caractérisée par une hypotonie et une faiblesse congénitales. La prévalence est inconnue. Moins de 10 patients ont été décrits. La biopsie musculaire montre des corps zébrés et d'autres manifestations de myopathie. Des mutations du gène de l'<i>actine alpha-squelettique</i> (<i>ACTA1</i>) pourraient être impliquées."},"de":{"name":"Zebra-Körperchen-Myopathie","definition":"Die Zebrakörper-Myopathie, eine benigne, kongenitale Myopatie, ist gekennzeichnet durch angeborene Muskelhypotonie und -schwäche."},"es":{"name":"Miopatía con cuerpos cebra","definition":"Es una miopatía congénita benigna caracterizada por hipotonía y debilidad presentes al nacimiento. La prevalencia es desconocida y hasta la fecha se ha descrito en menos de diez pacientes. La biopsia muscular muestra cuerpos \"cebra\" y otros cambios miopáticos. Las mutaciones del gen de la alfa-actina esquelética (<i>ACTA1</i>) podrían estar involucradas en la patogenia."},"it":{"name":"Miopatia con corpi zebrati"},"nl":{"name":"Zebra body-myopathie","definition":"Zebra body-myopathie is een goedaardige congenitale myopathie, gekenmerkt door congenitale hypotonie en zwakte. De prevalentie is niet gekend. Tot op heden werden minder dan tien patiënten beschreven. Spierbiopsie toont zebra-lichaampjes en andere myopathische veranderingen. Mogelijk wordt de aandoening veroorzaakt door mutaties in het gen <i>ACTA1</i>, dat codeert voor alfa-actine in skeletspier."},"pt":{"name":"Miopatia com corpos com padrão de zebra"},"pl":{"name":"Miopatia z ciałkami typu zebra"},"cs":{"name":"Zebra body myopatie"},"uk":{"name":"Міопатія з тільцями типу зебри","definition":"Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the <i>alpha-skeletal actin</i> (<i>ACTA1</i>) gene may be involved."},"zh":{"name":"斑马体肌病","definition":"斑马肌病是一种良性先天性肌病，以先天性张力减退和肌无力为特征。该病患病率未知。目前为止，不到十个病人被报道。肌肉活检显示斑马体和其他肌病改变。α-骨骼肌肌动蛋白(ACTA1)基因突变可能与此有关。"},"tr":{"name":"Zebra vücut miyopatisi"}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1699813614"},{"source":"MONDO","code":"0019949","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270969","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACTA1","name":"actin alpha 1, skeletal muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25747004[PMID]","hgnc":"129","ensembl":"ENSG00000143632","omim":"102610","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-26","source":"25747004[PMID]","terms":[{"hpo":"HP:0003736","label":"Autophagic vacuoles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012899","label":"Handgrip myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006785","label":"Limb-girdle muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003555","label":"Muscle fiber splitting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003715","label":"Myofibrillar myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003798","label":"Nemaline bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003713","label":"Muscle fiber necrosis","frequency":"Frequent (79-30%)","criteria":null}]}}