{"orpha":97232,"name":"Fingerprint body myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97232/","orphanet_url":"https://www.orpha.net/en/disease/detail/97232","names":{"fr":{"name":"Myopathie à empreintes digitales","synonyms":["Myopathie avec inclusions en empreinte digitale"],"definition":"La myopathie avec inclusions en empreinte digitale est une myopathie congénitale bénigne, caractérisée par une hypotonie et une faiblesse congénitales et par la présence de nombreux corps d'inclusion en empreinte digitale, localisés à la périphérie des fibres musculaires. La prévalence est inconnue. Moins de 20 patients ont été rapportés. Des cas sporadiques ont été décrits, ainsi que des cas de transmission récessive."},"de":{"name":"Fingerprint-Body-Myopathie","definition":"Die Fingerprint-Body-Myopathie ist eine kongenitale, benigne Muskelerkrankung. Sie ist klinisch durch angeborene Muskelhypotonie und -schwäche und histopathologisch durch zahlreiche 'fingerprint bodies' an der Peripherie der Muskelfasern gekennzeichnet."},"es":{"name":"Miopatía con inclusiones en huella dactilar","definition":"Es un trastorno muscular benigno congénito caracterizado por hipotonía y debilidad congénitas y por la presencia de numerosos cuerpos en \"huella dactilar\" localizados en la periferia de las fibras musculares. La prevalencia es desconocida y ha sido descrito menos de 20 pacientes. Se han observado pocos casos esporádicos, así como casos de transmisión recesiva."},"it":{"name":"Miopatia con corpi a impronta digitale"},"nl":{"name":"Fingerprint body-myopathie","definition":"Fingerprint body-myopathie is een congenitale goedaardige aandoening van spier, gekenmerkt door congenitale hypotonie en zwakte, en door aanwezigheid van talrijke 'fingerprint'-lichaampjes gesitueerd in de periferie van spiervezels. De prevalentie is niet gekend. Er werden minder dan 20 patiënten beschreven. Er werden enkele sporadische gevallen waargenomen, alsook gevallen van recessieve transmissie."},"pt":{"name":"Miopatia com corpos em forma de impressão digital"},"pl":{"name":"Miopatia \"odcisków palców"},"cs":{"name":"Fingerprint body myopatie"},"uk":{"name":"Міопатія з тільцями типу відбитків пальців","definition":"Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission."},"zh":{"name":"指纹体肌病","definition":"指纹体肌病是一种先天性良性肌肉疾病，其特征是先天性肌张力减退和肌无力，且存在大量位于肌纤维周围的指纹体。该病的患病率未知，目前只有不到20个病人被描述过，散发病例少见，隐性遗传案例也很少见。"},"tr":{"name":"Parmak izi vücut miyopatisi"}},"xrefs":[{"source":"OMIM","code":"305550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1251733531"},{"source":"MONDO","code":"0010591","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844560","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12720","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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":null}