inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Go to external page http://purl.obolibrary.org/obo/MONDO_0000507
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. [ Orphanet:52430 ]
Synonyms: IBMPFD pagetoid neuroskeletal syndrome inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia inclusion body myopathy/Paget disease/frontotemporal dementia inclusion body myopathy with Paget's disease of bone and frontotemporal dementia pagetoid amyotrophic lateral sclerosis limb-girdle muscular dystrophy with Paget disease of bone
Term information
- MEDGEN:322251 (MONDO:equivalentTo)
- OMIMPS:167320 (MONDO:equivalentTo)
- DOID:0050881 (MONDO:equivalentTo)
- Orphanet:52430 (MONDO:equivalentTo)
- GARD:10899 (MONDO:GARD)
- UMLS:C1833662 (MONDO:equivalentTo)
- SCTID:703544004 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen
http://www.orpha.net/ORDO/Orphanet_52430
http://identifiers.org/medgen/322251
http://identifiers.org/snomedct/703544004
http://linkedlifedata.com/resource/umls/id/C1833662
https://omim.org/phenotypicSeries/PS167320
http://purl.obolibrary.org/obo/DOID_0050881
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia