{"orpha":52430,"name":"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IBMPFD","Limb-girdle muscular dystrophy with Paget disease of bone","Pagetoid amyotrophic lateral sclerosis","Pagetoid neuroskeletal syndrome"],"definition":"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52430/","orphanet_url":"https://www.orpha.net/en/disease/detail/52430","names":{"fr":{"name":"Syndrome de myopathie à inclusions-maladie de Paget-démence fronto-temporale","synonyms":["Dystrophie musculaire des ceintures avec maladie de Paget","IBMPFD","Sclérose latérale amyotrophique pagétoïde","Syndrome neuro-squelettique pagetoïde"],"definition":"Le syndrome de myopathie à inclusions-maladie de Paget-démence fronto-temporale est un trouble génétique dégénératif multisystémique. Il se caractérise par une faiblesse musculaire proximale et distale (ressemblant cliniquement à la dystrophie musculaire des ceintures) survenant à l'âge adulte ; par une maladie de Paget précoce se manifestant par une douleur osseuse, une déformation et un élargissement des os longs ; et par une démence fronto-temporale précoce, se présentant tout d'abord par une dysnomie, une dyscalculie et des troubles de la compréhension, et ensuite par une aphasie progressive, une alexie et une agraphie. Au fur et à mesure que le syndrome progresse, la faiblesse musculaire commence à affecter les autres membres et les muscles respiratoires, conduisant finalement à une insuffisance respiratoire ou cardiaque."},"de":{"name":"Einschlusskörperchenmyopathie mit Paget-Syndrom und frontotemporaler Demenz","synonyms":["Gliedergürtelmuskeldystrophie mit Paget-Krankheit der Knochen","IBMPFD","Pagetoide amyotrophe Lateralsklerose"]},"es":{"name":"Miopatía por cuerpos de inclusión con enfermedad ósea de Paget y demencia frontotemporal","synonyms":["Disfrofia muscular de cinturas con enfermedad osea de Paget","Esclerosis lateral amiotrófica pagetoide","IBMPFD","Síndrome neuroesquelético pagetoide"],"definition":"Es un trastorno genético degenerativo multisistémico caracterizado por el inicio en la edad adulta de debilidad muscular proximal y distal (clínicamente similar a la distrofia muscular de cinturas); enfermedad ósea de Paget de inicio temprano, que se manifiesta con dolor óseo, malformación y ensanchamiento de los huesos largos; y demencia frontotemporal prematura, que se manifiesta inicialmente con disnomia, discalculia y dificultades en la comprensión seguidos de afasia progresiva, alexia y agrafia. A medida que avanza la enfermedad, la debilidad muscular comienza a afectar a otras extremidades y a los músculos respiratorios, derivando en insuficiencia respiratoria o cardíaca."},"it":{"name":"Miopatia da corpi inclusi associata alla malattia ossea di Paget e demenza frontotemporale","synonyms":["IBMPFD","Sclerosi laterale amiotrofica pagetoide","Sindrome neuroscheletrica pagetoide","Distrofia muscolare dei cingoli con malattia ossea di Paget"],"definition":"La miopatia da corpi inclusi associata alla malattia ossea di Paget e alla demenza frontotemporale (IBMPFD) è una malattia genetica degenerativa multisistemica ad esordio nell'età adulta, caratterizzata da debolezza dei muscoli prossimali e distali (clinicamente ricorda la distrofia muscolare dei cingoli; si veda questo temine), malattia di Paget ad esordio precoce, che si manifesta con dolore osseo, deformità e allargamento delle ossa lunghe, demenza fronto-temporale prematura che si manifesta con disnomia, discalculia e deficit della comprensione, seguiti da afasia, alessia e agrafia progressive. Con la progressione della malattia, la debolezza muscolare si estende agli altri arti e ai muscoli respiratori, esitando nell'insufficienza respiratoria o cardiaca."},"nl":{"name":"Inclusielichaammyopathie met botziekte van Paget en frontotemporale dementie","synonyms":["IBMPFD","Ledemaatgordel-spierdystrofie met botziekte van Paget","Limb-girdle-spierdystrofie met botziekte van Paget","Pagetoïd neuroskeletaal syndroom","Pagetoïde amyotrofe laterale sclerose","Pagetoïde amyotrofische laterale sclerose"],"definition":"Inclusielichaammyopathie met ziekte van Paget van het bot en frontotemporale dementie (IBMPFD) is een multisystemische, degeneratieve, genetische stoornis die gekarakteriseerd wordt door aanvang in de volwassenheid van proximale en distale spierzwakte (klinisch gelijkend op limb-girdle musculaire dystrofie; zie deze term); vroeg aanvangende ziekte van Paget van het bot (zie deze term) die zich manifesteert met botpijn, en misvorming en vergroting van pijpbeenderen; en premature frontotemporale dementie (zie deze term) die zich eerst manifesteert met dysnomie, dyscalculie en gebrekkige luistervaardigheid, gevolgd door progressieve afasie, alexie en agrafie. Naarmate de ziekte vordert, begint spierzwakte de andere ledematen en ademhalingsspieren te treffen, met als uiteindelijk resultaat respiratoir falen of hartfalen."},"pt":{"name":"Miopatia com corpos de inclusão - doença de Paget - demência fronto-temporal"},"pl":{"name":"Miopatia z ciałkami wtrętowymi z chorobą Pageta i demencją czołowo-skroniową","synonyms":["Dystrofia obręczowo-kończynowa z chorobą Pageta","IBMPFD","Pagetoidalne stwardnienie zanikowe boczne","Pagetoidalny zespół neuro-szkieletowy","IBMPFD","Pagetoidalny zespół nerwowo-szkieletowy","Pagetoidalne stwardnienie zanikowe boczne","Dystrofia obręczowo-kończynowa z chorobą Pageta"]},"cs":{"name":"Myopatie s inkluzními tělísky s Pagetovou kostní chorobou a frontotemporální demencí","synonyms":["IBMPFD","Pletencová svalová dystrofie s Pagetovou kostní chorobou","Pagetoidní amyotrofická laterální skleróza","Pagetoidní neuroskeletální syndrom"]},"uk":{"name":"Міопатія з тільцями включення з хворобою Педжета та лобно-скроневою деменцією","synonyms":["IBMPFD","Мязова дистрофія мязів поясу кінцівок з хворобою Педжета","Бічний аміотрофічний склероз Паджето","Нейроскелетний синдром Паджето"],"definition":"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure."},"zh":{"name":"包涵体肌病伴骨Paget病和额颞部痴呆","synonyms":["Paget病样肌萎缩侧索硬化"]},"tr":{"name":"Kemik Paget hastalığı ve frontotemporal demans ile birlikte vücut miyopatisi","synonyms":["Kemiğin Paget hastalığı ile seyreden ekstremite-kavşak tipi kas distrofisi","IBMPFD","Pagetoid nöroskeletal sendrom","Pagetoid amyotrofik lateral skleroz"]}},"xrefs":[{"source":"OMIM","code":"167320","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615422","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615424","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A41.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1947548457"},{"source":"MONDO","code":"0000507","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833662","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10899","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":54238,"name":"Myotonic dystrophy type 3","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98535,"name":"Frontotemporal degeneration with dementia","classifications":[181]},{"orpha":276061,"name":"Genetic frontotemporal degeneration with dementia","classifications":[156]},{"orpha":206662,"name":"Inclusion myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HNRNPA1","name":"heterogeneous nuclear ribonucleoprotein A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23455423[PMID]","hgnc":"5031","ensembl":"ENSG00000135486","omim":"164017","loci":["12q13.13"]},{"symbol":"HNRNPA2B1","name":"heterogeneous nuclear ribonucleoprotein A2/B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23455423[PMID]","hgnc":"5033","ensembl":"ENSG00000122566","omim":"600124","loci":["7p15.2"]},{"symbol":"VCP","name":"valosin containing protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15034582[PMID]_20301649[PMID]","hgnc":"12666","ensembl":"ENSG00000165280","omim":"601023","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"20301649[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301649[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-05","source":"20301649[PMID]","terms":[{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012083","label":"Ubiquitin-positive cerebral inclusion bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002145","label":"Frontotemporal dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030838","label":"Hip pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002450","label":"Abnormal motor neuron morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007354","label":"Amyotrophic lateral sclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004490","label":"Calvarial hyperostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001293","label":"Cranial nerve compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002442","label":"Dyscalculia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004347","label":"Weakness of muscles of respiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Very rare (<4-1%)","criteria":null}]}}