MeSH Browser

MeSH Supplementary: Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Unique ID: C563476
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C563476
Entry Term(s): IBMPFD; Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and-or Frontotemporal Dementia; Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia; Lower Motor Neuron Degeneration With Paget-Like Bone Disease; Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone; Pagetoid Amyotrophic Lateral Sclerosis; Pagetoid Neuroskeletal Syndrome
Heading Mapped to: *Osteitis Deformans; *Myositis, Inclusion Body; *Muscular Dystrophies, Limb-Girdle; *Frontotemporal Dementia
Frequency: 40
Note: An autosomal dominant disorder characterized by incomplete penetrance of three main features: disabling muscle weakness (in 90%), osteolytic bone lesions consistent with Paget disease (osteitis deformans) (in 51%), and frontotemporal dementia (in 32%). MUSCLE WEAKNESS is an isolated symptom in about 30% of patients and the presenting symptom in greater than half of patients. Mutations in the VCP gene have been identified for IBMPFD1. OMIM: 167320
Date of Entry: 2012/11/05
Revision Date: 2015/08/18

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia MeSH Supplementary Concept Data 2024