pagetoid amyotrophic lateral sclerosis (inclusion body myopathy with early-onset Paget disease & frontotemporal dementia, IBMPFD, muscular dystrophy limb-girdle with Paget disease of bone, pagetoid neuroskeletal syndrome, lower motor neuron degeneration with Paget-like bone disease)
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Genetics
- associated with defects in VCP
Clinical manifestations
- ALS with features of Paget's disease of bone
- adult-onset proximal & distal muscle weakness (clinically resembling limb girdle muscular dystrophy)
- early-onset Paget disease of bone in most cases
- premature frontotemporal dementia