Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.

Also known as: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1, inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1, IBMPFD1, inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1, lower motor neuron degeneration with Paget-like bone disease, multisystem proteinopathy 1, muscular dystrophy, limb-girdle, with Paget disease of bone, pagetoid amyotrophic lateral sclerosis

13 clinical trials for this condition and its sub-types.