Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [Supplementary Concept]

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 introduced: November 5, 2012

MeSH Unique ID: C563476

Heading Mapped to:

• Osteitis Deformans
• Myositis, Inclusion Body
• Muscular Dystrophies, Limb-Girdle
• Frontotemporal Dementia

Entry Terms:

• Pagetoid Amyotrophic Lateral Sclerosis
• Pagetoid Neuroskeletal Syndrome
• Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
• 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