/inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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

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

Rare Disease

MONDO:0008178

Also Known As

inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1IBMPFD1inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1lower motor neuron degeneration with Paget-like bone diseasemultisystem proteinopathy 1muscular dystrophy, limb-girdle, with Paget disease of bonepagetoid amyotrophic lateral sclerosis

Definition

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.