Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and-or Frontotemporal Dementia

IBMPFD

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

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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

T047

3

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20150818

C563476

C1833662

40

20121105

0

20121105