{"orpha":604680,"name":"Symptomatic form of X-linked centronuclear myopathy in female carriers","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Symptomatic form of X-linked myotubular myopathy in female carriers","Symptomatic form of XLCNM in female carriers","Symptomatic form of XLMTM in female carriers"],"definition":"A rare centronuclear myopathy characterized by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-604680/","orphanet_url":"https://www.orpha.net/en/disease/detail/604680","names":{"fr":{"name":"Forme symptomatique de la myopathie centronucléaire liée à l'X de la femme porteuse","synonyms":["Forme symptomatique de XLCNM de la femme porteuse","Forme symptomatique de XLMTM de la femme porteuse","Forme symptomatique de la myopathie congénitale myotubulaire liée à l'X de la femme porteuse"],"definition":"Myopathie centronucléaire rare caractérisée par une faiblesse musculaire asymétrique de sévérité variable, touchant les ceintures. La gravité peut aller de l'asymétrie squelettique à la perte de mobilité. D'autres symptômes peuvent inclure une faiblesse des muscles respiratoires, une incontinence urinaire, des signes d'atteinte bulbaire (faiblesse faciale, limitation des mouvements extra-oculaires, ophtalmoparésie, ptosis et dysarthrie), ou une atteinte squelettique (cyphoscoliose, scoliose, hyperlaxité articulaire, contractures articulaires des membres inférieurs, déformations des pieds et contractures articulaires des mains et/ou du visage). De nombreuses femmes porteuses restent asymptomatiques."},"de":{"name":"Symptomatische Form der X-chromosomalen zentronukleären Myopathie bei weiblichen Anlageträgerinnen","synonyms":["Symptomatische Form der X-chromosomalen myotubuläre Myopathie bei weiblichen Anlageträgerinnen","Symptomatische Form von XLCNM bei weiblichen Anlageträgerinnen","Symptomatische Form von XLMTM bei weiblichen Anlageträgerinnen"],"definition":"Eine seltene zentronukleäre Myopathie, die durch eine Muskelschwäche unterschiedlichen Schweregrades gekennzeichnet ist, die typischerweise asymmetrisch und mit einem Gliedergürtelmuster verläuft. Der Schweregrad kann von einer Asymmetrie des Skeletts bis zum Verlust der Gehfähigkeit reichen. Andere Manifestationen können Atemmuskelschwäche, Harninkontinenz, bulbäre Zeichen (Schwäche der Fazialmuskeln, Einschränkung der extraokularen Bewegungen, Ophthalmoparese, Ptosis und Dysarthrie) oder Skelettbeteiligung (Kyphoskoliose, Skoliose, Gelenkhyperlaxie, Gelenkkontrakturen der unteren Extremitäten, Fußdeformitäten und Hand- und/oder Gesichtskontrakturen) umfassen. Viele weibliche Überträgerinnen bleiben asymptomatisch."},"es":{"name":"Forma sintomática de miopatía centronuclear ligada al cromosoma X en mujeres portadoras","synonyms":["Forma sintomática de XLCNM en mujeres portadoras","Forma sintomática de XLMTM en mujeres portadoras","Forma sintomática de miopatía miotubular ligada al cromosoma X en mujeres portadoras"],"definition":"Es una miopatía centronuclear poco frecuente caracterizada por debilidad muscular de gravedad variable, habitualmente asimétrica, con afectación de las cinturas escapular y pélvica. El grado de afectación oscila desde asimetría esquelética hasta pérdida de la capacidad de deambulación. Otras manifestaciones pueden incluir debilidad de los músculos respiratorios, incontinencia urinaria, síntomas bulbares (debilidad facial, limitación de los movimientos extraoculares, oftalmoparesia, ptosis y disartria) o afectación esquelética (cifoescoliosis, escoliosis, hiperlaxitud articular, contracturas articulares de las extremidades inferiores, deformidades del pie y contracturas faciales y/o de las de manos). Muchas mujeres portadoras permanecen asintomáticas."},"it":{"name":"Forma sintomatica della miopatia centronucleare legata all’X nelle femmine portatrici","synonyms":["Forma sintomatica della XLCNM nelle femmine portatrici","Forma sintomatica della XLMTM nelle femmine portatrici","Forma sintomatica della miopatia miotubulare legata all’X nelle femmine portatrici"]},"nl":{"name":"Symptomatische vorm van X-gebonden centronucleaire myopathie bij vrouwelijke dragers","synonyms":["Symptomatische vorm van X-gebonden myotubulaire myopathie bij vrouwelijke dragers","Symptomatische vorm van XLCNM bij vrouwelijke dragers","Symptomatische vorm van XLMTM bij vrouwelijke dragers"],"definition":"Een zeldzame centronucleaire myopathie, gekenmerkt door spierzwakte met variabele ernst die doorgaans asymmetrisch is en een 'limb-girdle'-patroon vertoont. De ernst kan variëren van asymmetrie van skelet tot verlies van zelfstandig loopvermogen. Overige manifestaties die kunnen optreden, zijn onder meer zwakte van ademhalingsspieren, urinaire incontinentie, bulbaire verschijnselen (zwakte van aangezichtsspieren, beperking van extraoculaire bewegingen, oftalmoparese, ptosis en dysartrie), of betrokkenheid van skelet (kyfoscoliose, scoliose, gewrichtshyperlaxiteit, gewrichtscontracturen van onderste extremiteiten, voetmisvormingen, en contracturen van hand en/of aangezicht). Vele vrouwelijke dragers blijven asymptomatisch."},"pt":{"name":"Forma sintomática de miopatia centronuclear ligada ao X em mulheres portadoras","synonyms":["Forma sintomática de XLCNM em mulheres portadoras","Forma sintomática de XLMTM em mulheres portadoras","Forma sintomática de miopatia miotubular ligada ao X em mulheres portadoras"],"definition":"Miopatia centronuclear rara caracterizada por uma gravidade variável de fraqueza muscular que é tipicamente assimétrica com um padrão de cintura escapular. A gravidade pode variar de assimetria esquelética à perda de deambulação. Outras manifestações podem incluir fraqueza muscular respiratória, incontinência urinária, sinais bulbares (fraqueza facial, limitação de movimentos extra-oculares, oftalmoparesia, ptose e disartria) ou envolvimento esquelético (cifoescoliose, escoliose, hiperfrouxidão articular, contraturas articulares das extremidades inferiores, deformidades nos pés e contraturas nas mãos e/ou faciais). Muitas portadoras permanecem assintomáticas."},"pl":{"name":"Objawowa postać centronuklearnej miopatii sprzężonej z choromosomem X u kobiet nosicielek","synonyms":["Symptomatic form of X-linked myotubular myopathy in female carriers","Symptomatic form of XLCNM in female carriers","Symptomatic form of XLMTM in female carriers"],"definition":"Rzadka miopatia centronuklearna charakteryzująca się asymetrycznym, zmiennym nasileniem osłabienia mięśni w lokalizacji obręczowo-kończynowej. Może objawiać się asymetrią układu kostnego aż po utratę zdolności samodzielnego poruszania. Inne objawy to mogą obejmować osłabienie mięśni oddechowych, nietrzymanie moczu, objawy opuszkowe (osłabienie twarzy, ograniczenie ruchów gałek ocznych, oftalmopareza, opadanie powiek i dyzartria) oraz zajęcie układu kostnego (kifoskolioza, skolioza, nadmierna wiotkość stawów, przykurcze w stawach kończyn dolnych, deformacje stóp oraz przykurcze w stawach dłoni i/lub twarzy). Wiele kobiet-nosicielek nie ma objawów klinicznych."},"cs":{"name":"Symptomatická forma X-vázané centronukleární myopatie u žen přenašeček","synonyms":["Symptomatic form of X-linked myotubular myopathy in female carriers","Symptomatic form of XLCNM in female carriers","Symptomatic form of XLMTM in female carriers"]},"uk":{"name":"Симптоматична форма Х-зчепленої центронуклеарної міопатії у жінок-носіїв","synonyms":["Симптоматична форма XLCNM у жінок-носіїв","Симптоматична форма Х-зчепленої міотубулярної міопатії у жінок-носіїв","Симптоматична форма XLMTM у жінок-носіїв"],"definition":"A rare centronuclear myopathy characterized by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic."},"tr":{"name":"Symptomatic form of X-linked centronuclear myopathy in female carriers","synonyms":["Symptomatic form of X-linked myotubular myopathy in female carriers","Symptomatic form of XLCNM in female carriers","Symptomatic form of XLMTM in female carriers"]}},"xrefs":[{"source":"OMIM","code":"310400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035826","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":595,"name":"Centronuclear myopathy","classifications":[156,181]},{"orpha":207110,"name":"Qualitative or quantitative defects of myotubularin","classifications":[156]}],"children":[],"genes":[{"symbol":"MTM1","name":"myotubularin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15883335[PMID]","hgnc":"7448","ensembl":"ENSG00000171100","omim":"300415","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"28685322[PMID]_34011573[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28685322[PMID]_34011573[PMID]_ORPHANET"}],"phenotypes":null}