Preferred Label : Inclusion body myopathy with Paget disease of bone and frontotemporal dementia;
ICD-11 definition : Autosomal dominantly inherited multisystem degenerative disorder caused by mutations
in p97/VCP (valosin-containing protein). Myopathy is present in 90%of affected individuals,
characterized by adult-onset, proximal and distal muscle weakness with associated
atrophy.Affected skeletal muscle contains rimmed vacuoles and both myonuclear and
sarcoplasmic inclusions. The penetrance of fronto-temporal dementia is approximately
30% and its onset is at a later age than myopathy. CNS tissue has prominent intranuclear
ubiquitinated and TDP-43-positive inclusions. Paget disease of the bone manifests
in approximately 50% of patients at a similar age to the myopathy. Pagetoid osteoclasts
have ubiquitinated nuclear and cytosolic inclusions as well.;
ICD-11 synonym : IBMPFD - [inclusion body myopathy with Paget disease of bone and frontotemporal dementia];
ICD-11 acronym : IBMPFD;
Origin ID : 1947548457;
Automatic exact mappings (from CISMeF team)
Autosomal dominantly inherited multisystem degenerative disorder caused by mutations
in p97/VCP (valosin-containing protein). Myopathy is present in 90%of affected individuals,
characterized by adult-onset, proximal and distal muscle weakness with associated
atrophy.Affected skeletal muscle contains rimmed vacuoles and both myonuclear and
sarcoplasmic inclusions. The penetrance of fronto-temporal dementia is approximately
30% and its onset is at a later age than myopathy. CNS tissue has prominent intranuclear
ubiquitinated and TDP-43-positive inclusions. Paget disease of the bone manifests
in approximately 50% of patients at a similar age to the myopathy. Pagetoid osteoclasts
have ubiquitinated nuclear and cytosolic inclusions as well.
