Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

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

Also Known As:

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

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Myositis: 4472
    - Inclusion Body Myositis: 724
      - Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Limb-Girdle Muscular Dystrophies: 800
        Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
- Bone Diseases: 5863
  - Osteitis Deformans: 838
    - Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - TDP-43 Proteinopathies: 211
    - Frontotemporal Lobar Degeneration: 1673
      - Frontotemporal Dementia: 2707
        Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Dementia: 38184
      - Frontotemporal Lobar Degeneration: 1673
        Frontotemporal Dementia: 2707
        Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Myositis: 4472
      - Inclusion Body Myositis: 724
        Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Limb-Girdle Muscular Dystrophies: 800
        Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Limb-Girdle Muscular Dystrophies: 800
      - Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Proteostasis Deficiencies: 1400
    - TDP-43 Proteinopathies: 211
      - Frontotemporal Lobar Degeneration: 1673
        Frontotemporal Dementia: 2707
        Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94
Mental Disorders: 24177
- Neurocognitive Disorders: 1448
  - Dementia: 38184
    - Frontotemporal Lobar Degeneration: 1673
      - Frontotemporal Dementia: 2707
        Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia: 94

Ibrahim Alcan Selected Research

Ibrahim Alcan Research Topics

Disease

Drug/Important Bio-Agent (IBA)