{"orpha":607,"name":"Nemaline myopathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["NEM","NM","Nemaline rod myopathy"],"definition":"Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-607/","orphanet_url":"https://www.orpha.net/en/disease/detail/607","names":{"fr":{"name":"Myopathie à némaline","synonyms":["Myopathie congénitale à bâtonnets","NEM","NM"],"definition":"La myopathie à némaline (MN) recouvre un large spectre de myopathies congénitales caractérisées par une hypotonie, une faiblesse musculaire et une hypo- ou aréflexie ostéotendineuse, avec présence de corps à némaline (bâtonnets) sur la biopsie musculaire."},"de":{"name":"Nemalin-Myopathie","synonyms":["NEM","NM","Nemalin-Stäbchen-Myopathie"],"definition":"Die Nemalin-Myopathie (NM) umfasst ein weites Spektrum kongenitaler Myopathien, die gekennzeichnet sind durch Hypotonie, Muskelschwäche und abgeschwächte oder fehlende tiefe Sehnenreflexe. In der Muskelbiopsie sind Nemalinkörper (Stäbchen) nachweisbar."},"es":{"name":"Miopatía nemalínica","synonyms":["MN","Miopatía nemalínica de bastoncillos","NEM","NM"],"definition":"La miopatía nemalínica (NM) abarca un amplio espectro de miopatías congénitas caracterizadas por hipotonía, debilidad y reflejos tendinosos profundos deprimidos o ausentes, con evidencia patológica de cuerpos nemalínicos (bastones) en la biopsia muscular."},"it":{"name":"Miopatia nemalinica","synonyms":["Miopatia nemalinica dei bastoncelli","NEM","NM"],"definition":"La miopatia nemalinica (NM) comprende un ampio spettro di miopatie congenite da ipotonia, debolezza e assenza o riduzione dei riflessi tendinei profondi, con evidenza di corpi (bastoncelli) nemalinici sulla biopsia muscolare."},"nl":{"name":"Nemaline-myopathie","synonyms":["NEM","NM","Nemalinestaafjes-myopathie"],"definition":"Nemalinemyopathie (NM) omvat een groot spectrum van aangeboren myopathieën gekenmerkt door hypotonie, zwakte en verminderde of afwezige peesreflexen, met pathologische indicaties van staafvormige (nemaline) structuren op spierbiopsieën."},"pt":{"name":"Miopatia nemalínica","synonyms":["Miopatia com bastonetes"]},"pl":{"name":"Miopatia nemalinowa","synonyms":["Miopatia nitkowata","NEM","NM"],"definition":"Miopatia nemalinowa (NM) obejmuje szerokie spektrum miopatii charakteryzujących się hipotonią, osłabieniem lub brakiem głębokich odruchów ścięgnistych oraz obecnością patologicznych wtrętów nemalinowych w biopsji mięśnia."},"cs":{"name":"Nemalinová myopatie","synonyms":["NEM","NM","Nemalinová tyčinková myopatie"]},"uk":{"name":"Немалінова міопатія","synonyms":["NEM","Немалінова паличкова міопатія","NM"],"definition":"Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy."},"zh":{"name":"杆状体肌病","synonyms":["杆状体肌病"]},"tr":{"name":"Nemalin miyopatisi","synonyms":["NM","NEM","Nemalin çubuk miyopatisi"]}},"xrefs":[{"source":"ICD-11","code":"8C72.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1996502540"},{"source":"MONDO","code":"0018958","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18958","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017696","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206157","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12033","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]}],"children":[{"orpha":171442,"name":"Adult-onset nemaline myopathy","type":"Disease"},{"orpha":98902,"name":"Amish nemaline myopathy","type":"Disease"},{"orpha":171439,"name":"Childhood-onset nemaline myopathy","type":"Disease"},{"orpha":171433,"name":"Intermediate nemaline myopathy","type":"Disease"},{"orpha":171430,"name":"Severe congenital nemaline myopathy","type":"Disease"},{"orpha":171436,"name":"Typical nemaline myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"ORPHANET_15221447[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"}],"phenotypes":null}