{"orpha":55595,"name":"TNP03-related limb-girdle muscular dystrophy D2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant limb-girdle muscular dystrophy type 1F","LGMD type 1F","LGMD1F","Limb-girdle muscular dystrophy type 1F"],"definition":"A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-55595/","orphanet_url":"https://www.orpha.net/en/disease/detail/55595","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à TNP03 D2","synonyms":["Dystrophie musculaire des ceintures autosomique dominante type 1F","Dystrophie musculaire des ceintures type 1F","LGMD associée à TNP03 D2","LGMD type 1F","LGMD1F"],"definition":"La dystrophie musculaire des ceintures autosomique dominante type 1F (LGMD1F) est un sous-type de dystrophie musculaire des ceintures autosomique dominante survenant à des âges variés. Elle se caractérise par une faiblesse proximale progressive et une fonte de la musculature scapulaire et pelvienne (la ceinture pelvienne et surtout le muscle ilio psoas étant les plus touchés), souvent associées à une hypertrophie des mollets, une dysphagie, une arachnodactylie avec ou sans contractures des doigts, et/ou une atteinte des muscles axiaux et distaux. Les signes additionnels incluent une démarche anormale, une intolérance à l'exercice, une myalgie, une fatigue et une insuffisance respiratoire. Les troubles de la conduction cardiaque ne sont généralement pas observés."},"de":{"name":"TNP03-assoziierte Gliedergürtelmuskeldystrophie D2","synonyms":["Gliedergürtelmuskeldystrophie Typ 1F","Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1F","LGMD Typ 1F","LGMD1F","TNP03-assoziierte LGMD D2"],"definition":"Eine seltene Unterform der autosomal-dominanten Gliedergürtel-Muskeldystrophie mit variablem Erkrankungsalter. Sie ist gekennzeichnet durch progressive, proximale Schwäche und Muskelschwund der Schulter- und Beckenmuskulatur (wobei der Beckengürtel und insbesondere der Ileopsoas-Muskel stärker betroffen sind). Häufig assoziiert sind Wadenhypertrophie, Dysphagie, Arachnodaktylie mit oder ohne Fingerkontrakturen und/oder distale und axiale Muskelbeteiligung. Weitere Merkmale sind abnormaler Gang, Belastungsintoleranz, Myalgie, Müdigkeit und respiratorische Insuffizienz. Kardiale Reizleitungsstörungen werden typischerweise nicht beobachtet."},"es":{"name":"Distrofia muscular de cinturas D2 asociada a TNP03","synonyms":["Distrofia muscular de cinturas autosómica dominante tipo 1F","LGMD1F"],"definition":"Es un subtipo de distrofia muscular de cinturas autosómica dominante con una edad de inicio variable, caracterizado por debilidad proximal progresiva y atrofia de la musculatura pélvica y escapular (estando más afectada la cintura pélvica y especialmente el músculo iliopsoas) y asociación frecuente de hipertrofia gemelar, disfagia, aracnodactilia con o sin contracturas en los dedos y/o afectación de la musculatura distal y axial. Otros rasgos adicionales incluyen una marcha anormal, intolerancia al ejercicio, mialgias, fatiga e insuficiencia respiratoria. Por lo general, no se observan defectos de la conducción cardiaca."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica dominante, tipo 1F","synonyms":["LGMD1F"],"definition":"La distrofia muscolare dei cingoli autosomica dominante tipo 1F (LGMD1F) è un sottotipo di distrofia muscolare dei cingoli, ad eredità autosomica dominante, caratterizzato da un'età di esordio variabile, debolezza e atrofia progressiva della muscolatura prossimale pelvica e della spalla (con un maggiore interessamento dei cingoli pelvici, in particolare del muscolo ileo-psoas), spesso associata ad ipertrofia del polpaccio, disfagia, aracnodattilia con o senza contratture delle dita e/o interessamento dei muscoli distali e assiali. Altri segni sono le anomalie della deambulazione, l'intolleranza all'esercizio fisico, la mialgia, l'affaticamento e l'insufficienza respiratoria. Di solito non sono presenti difetti nella conduzione cardiaca."},"nl":{"name":"TNPO3-gerelateerde limb-girdle-spierdystrofie D2","synonyms":["Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1F","Autosomaal dominante ledemaatgordel-spierdystrofie type 1F","Autosomaal dominante limb-girdle-spierdystrofie type 1F","LGMD type 1F","LGMD1F","Limb-girdle-spierdystrofie type 1F","TNPO3-gerelateerde LGMD D2"],"definition":"Een zeldzaam subtype van autosomaal dominante limb-girdle-spierdystrofie met een variabele aanvangsleeftijd, gekarakteriseerd door proximale zwakte en atrofie van schouder- en bekkenspieren (waarbij de bekkengordel en vooral de heup-lendenspier (musculus iliopsoas) meer getroffen worden) en door frequente associatie met hypertrofie van kuit, dysfagie, arachnodactylie met of zonder contracturen van vingers en/of betrokkenheid van distale en axiale spieren. Bijkomende kenmerken zijn onder eer een abnormale gang, inspanningsintolerantie, myalgie, vermoeidheid en respiratoire insufficiëntie. Hartgeleidingsdefecten worden doorgaans niet waargenomen."},"pt":{"name":"Distrofia muscular das cinturas dos membros D2 TNP03-relacionada","synonyms":["Distrofia muscular das cinturas dos membros dominante tipo 1F"]},"pl":{"name":"Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1F","synonyms":["LGMD1F"]},"cs":{"name":"Autozomálně dominantní svalová dystrofie pletencového typu 1F","synonyms":["LGMD1F"]},"uk":{"name":"TNP03-асоційована кінцівково-поясна мязова дистрофія D2","synonyms":["Аутосомно-домінантна мязова дистрофія мязів пояса кінцівок, тип 1F","LGMD тип 1F","LGMD1F","Мязова дистрофія скелетних мязів кінцівок, тип 1F"],"definition":"A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed."},"zh":{"name":"TNP03相关性肢带肌营养不良D2","synonyms":["常染色体显性遗传性肢带型肌营养不良1F型"]},"tr":{"name":"TNP03--ilişkili ekstremite-kavşak tipi kas distrofisi D2","synonyms":["LGMD1F","LGMD tipi 1F","TNP03-ilişkili LGMD D2","Ekstremite-kavşak tipi kas distrofisi tip 1F","Otozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1F"]}},"xrefs":[{"source":"OMIM","code":"608423","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2102590721"},{"source":"MONDO","code":"0012034","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564242","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842062","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102014,"name":"Autosomal dominant limb-girdle muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TNPO3","name":"transportin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23543484[PMID]","hgnc":"17103","ensembl":"ENSG00000064419","omim":"610032","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":64.0,"area":"Worldwide","status":"Validated","source":"23667635[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23667635[PMID]"}],"phenotypes":null}