{"orpha":2597,"name":"Mitochondrial myopathy-lactic acidosis-deafness syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Mitochondrial myopathy-lactic acidosis-hearing loss syndrome"],"definition":"A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2597/","orphanet_url":"https://www.orpha.net/en/disease/detail/2597","names":{"fr":{"name":"Syndrome de myopathie mitochondriale-acidose lactique-surdité","definition":"Myopathie d'origine métabolique rare survenant pendant l'enfance, caractérisée sur le plan clinique par un retard de croissance, une faiblesse musculaire sévère et une surdité neurosensorielle modérée, et sur le plan biochimique, par une acidose métabolique, une concentration élevée en pyruvate sérique, une hyperalaninémie et une hyperalaninurie. Aucun cas n'a été décrit dans la littérature depuis 1973."},"de":{"name":"Mitochondriale Myopathie-Laktatazidose-Schwerhörigkeit-Syndrom","synonyms":["Syndrom der mitochondrialen Myopathie mit Laktatazidose und Hörverlust"],"definition":"Eine seltene metabolische Myopathie, die sich im Kindesalter manifestiert und klinisch durch Wachstumsstörungen, schwere Muskelschwäche und mäßige sensorineurale Taubheit sowie biochemisch durch metabolische Azidose, erhöhte Pyruvatkonzentration im Serum, Hyperalaninämie und Hyperalaninurie gekennzeichnet ist. Seit 1973 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de miopatía mitocondrial-acidosis láctica-sordera","synonyms":["Síndrome de miopatía mitocondrial-acidosis láctica-hipoacusia"],"definition":"Es una miopatía metabólica poco frecuente que debuta en la infancia caracterizada clínicamente por retraso del crecimiento, debilidad muscular grave y sordera neurosensorial moderada y, bioquímicamente, por acidosis metabólica, concentración sérica elevada de piruvato, hiperalaninemia e hiperalaninuria. No ha habido más casos descritos en la literatura desde 1973."},"it":{"name":"Miopatia mitocondriale - acidosi lattica - sordità","synonyms":["Miopatia mitocondriale - acidosi lattica - perdita di udito"]},"nl":{"name":"Mitochondriale myopathie - melkzuuracidose - doofheid-syndroom","synonyms":["Mitochondriale myopathie - melkzuuracidose - gehoorverlies-syndroom"],"definition":"Een zeldzame metabole myopathie die zich presenteert in de kindertijd, klinisch gekenmerkt door groeiachterstand, ernstige spierzwakte, en matige sensorineurale doofheid, en biochemisch gekenmerkt door metabole acidose, verhoogde pyruvaatconcentratie in serum, hyperalaninemie en hyperalaninurie. Sinds 1973 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de miopatia mitocondrial-acidose láctica-surdez"},"pl":{"name":"Miopatia mitochondrialna - kwasica mleczanowa - głuchota","synonyms":["Miopatia mitochondrialna - kwasica mleczanowa - utrata słuchu"],"definition":"Rzadka miopatia metaboliczna, która ujawnia się w dzieciństwie i klinicznie charakteryzuje się zahamowaniem wzrostu, znacznym osłabieniem mięśni i niedosłuchem zmysłowo-nerwowym umiarkowanego stopnia, zaś w badaniach biochemicznych kwasicą metaboliczną, podwyższonym stężeniem pirogronianu w surowicy, hiperalaninemią i hiperalaninurią. Od 1973 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující mitochondriální myopatii, laktátovou acidózu a hluchotu","synonyms":["Syndrom zahrnující mitochondriální myopatii, laktátovou acidózu a ztrátu sluchu"]},"uk":{"name":"Синдром мітохондріальної міопатії-молочнокислого ацидозу-глухоти","synonyms":["Синдром мітохондріальної міопатії-молочнокислого ацидозу-втрати слуху"],"definition":"A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973."},"zh":{"name":"线粒体肌病-乳酸酸中毒-耳聋综合征","synonyms":["线粒体肌病-乳酸酸中毒-听力丧失综合征"]},"tr":{"name":"Mitokondriyal miyopati-laktik asidoz-sağırlık sendromu","synonyms":["Mitokondriyal miyopati-laktik asidoz-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"251950","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016825","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518539","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3682","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":254837,"name":"Unspecified mitochondrial disorder","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4725145[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4725145[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004320","label":"Vaginal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}