Inclusion Body Myopathy Associated with Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)

Genes affected: usually valosin-containing protein (VCP), but also HNRNPA1 or HNRNPA2B1

Inheritance: autosomal dominant

Onset: middle age

Clinical features:

(1) early onset of Paget's disease of bone

(2) premature frontotemporal dementia (FTD)

(3) adult-onset myopathy with proximal and distal weakness that resembles limb-girdle muscular dystrophy

(4) variable psychosis

(5) variable cognitive impairment

Complications may include:

(1) dilated cardiomyopathy

(2) Parkinson's disease

(3) amyotrophic lateral sclerosis (ALS)

(4) pyramidal tract dysfunction

(5) senorineural hearing loss