{"orpha":2593,"name":"Tubular aggregate myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2593/","orphanet_url":"https://www.orpha.net/en/disease/detail/2593","names":{"fr":{"name":"Myopathie avec agrégats tubulaires","definition":"Myopathie congénitale rare caractérisée, au niveau ultrastructurel, par la présence d'agrégats tubulaires dans la région sous-sarcolemmique des fibres musculaires. Le plus souvent, la maladie se manifeste par une faiblesse musculaire proximale à progression lente (principalement des membres inférieurs), une paralysie périodique, des crampes musculaires après l'effort et des douleurs musculaires. Des anomalies oculaires, telles qu'une ophtalmoplégie ou des anomalies de la pupille peuvent être associées. L'intensité des symptômes varie, des cas de patients avec une force musculaire intacte mais présentant des myalgies ou une fatigue ayant été décrits, tout comme des cas asymptomatiques sur le plan clinique."},"de":{"name":"Myopathie mit tubulären Aggregaten","definition":"Eine kongenitale Myopathie, die ultrastrukturell durch das Vorhandensein röhrenförmiger Aggregate in der subsarkolemmalen Region der Muskelfaser gekennzeichnet ist. Sie äußert sich in der Regel durch eine langsam fortschreitende proximale Muskelschwäche vor allem der unteren Gliedmaßen, periodische Lähmungen, Muskelkrämpfe nach der Anstrengung und Muskelschmerzen. Augenanomalien wie Ophthalmoplegie oder Pupillenanomalien können ebenfalls auftreten. Die Intensität der Symptome ist unterschiedlich, es wurden Fälle mit normaler Muskelkraft, aber Myalgie oder Müdigkeit sowie klinisch asymptomatische Fälle beschrieben."},"es":{"name":"Miopatía con agregados tubulares","definition":"Es una miopatía congénita poco frecuente caracterizada ultraestructuralmente por la presencia de agregados tubulares en la región subsarcolemal de la fibra muscular. Se presenta con mayor frecuencia con debilidad muscular proximal lentamente progresiva, predominantemente en las extremidades inferiores, parálisis periódica, calambres musculares post-ejercicio y mialgias. También puede estar asociada a anomalías oculares tales como oftalmoplejía o anomalías pupilares. La intensidad de los síntomas es variable, habiéndose descrito casos con una fuerza muscular normal aunque con mialgias o cansancio, así como casos clínicamente asintomáticos."},"it":{"name":"Miopatia con aggregati tubulari","definition":"Si tratta di una miopatia congenita rara, caratterizzata, a livello ultrastrutturale, dalla presenza di aggregati tubulari nella regione subsarcolemmale delle fibre muscolari. Di solito esordisce con debolezza dei muscoli prossimali a progressione lenta, che interessa soprattutto gli arti inferiori, paralisi periodica, crampi muscolari indotti dall'esercizio fisico e dolore muscolare. Può associarsi ad anomalie oculari (oftalmoplegia o anomalie della pupilla). La gravità dei sintomi è variabile; alcuni pazienti presentano una forza muscolare normale con mialgia o affaticamento, mentre altri sono asintomatici."},"nl":{"name":"Myopathie met tubulaire aggregaten","definition":"Een zeldzame, congenitale myopathie, ultrastructureel gekarakteriseerd door de aanwezigheid van tubulaire aggregaten in de subsarcolemmale regio van spiervezels. Het presenteert zich doorgaans met traag progressieve proximale spierzwakte, voornamelijk in de onderste ledematen, periodieke verlamming, spierkrampen na inspanning, en spierpijn. Ooganomalieën zoals oftalmoplegie of pupilafwijkingen kunnen geassocieerd zijn. de intensiteit van de symptomen varieert, en er werden zowel gevallen met normale spierkracht maar met myalgie of vermoeidheid, als klinisch asymptomatische gevallen beschreven."},"pt":{"name":"Miopatia de agregados tubulares"},"pl":{"name":"Miopatia z tubularnymi agregatami"},"cs":{"name":"Myopatie s tvorbou tubulárních agregátů"},"uk":{"name":"Тубулярна агрегатна міопатія","definition":"A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described."},"zh":{"name":"微管聚集性肌病"},"tr":{"name":"Tübüler agregat miyopatisi"}},"xrefs":[{"source":"OMIM","code":"160565","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615883","qualifier":"BTNT","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":"1488729253"},{"source":"MONDO","code":"0008051","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410207","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3884","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":"ORAI1","name":"ORAI calcium release-activated calcium modulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24591628[PMID]","hgnc":"25896","ensembl":"ENSG00000276045","omim":"610277","loci":["12q24.31"]},{"symbol":"STIM1","name":"stromal interaction molecule 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23332920[PMID]","hgnc":"11386","ensembl":"ENSG00000167323","omim":"605921","loci":["11p15.4"]},{"symbol":"CASQ1","name":"calsequestrin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28895244[PMID]_29039140[PMID]","hgnc":"1512","ensembl":"ENSG00000143318","omim":"114250","loci":["1q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"6176692[PMID]_66818785[PMID]_6681878[PMID]_16758596[PMID]_1484321[PMID]_9447609[PMID]_8836987[PMID]_11547948[PMID]_15452313[PMID]_25227914[PMID]_27882542[PMID]_23332920[PMID]_24570283[PMID]_25326555[PMID]_37923376[PMID]_35666680[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"6176692[PMID]_66818785[PMID]_6681878[PMID]_16758596[PMID]_1484321[PMID]_9447609[PMID]_8836987[PMID]_11547948[PMID]_15452313[PMID]_25227914[PMID]_27882542[PMID]_23332920[PMID]_24570283[PMID]_25326555[PMID]_37923376[PMID]_35666680[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-15","source":"15452313[PMID]","terms":[{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030200","label":"Fatiguable weakness of proximal limb muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100301","label":"Muscle fiber tubular inclusions","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003554","label":"Type 2 muscle fiber atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}