Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Q102553): Difference between revisions
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Transtorno degenerativo multissistêmico de herança autossômica dominante causado por mutações em p97/VCP (proteína contendo valosina). A miopatia está presente em 90% dos indivíduos afetados, caracterizada por fraqueza muscular proximal e distal de início na idade adulta com atrofia associada. O músculo esquelético afetado contém “vacúolos aromáticos” e inclusões tanto mionucleares quanto sarcoplasmáticas. A penetrância de demência fronto-temporal é de aproximadamente 30% e seu início é mais tardio do que o da miopatia. O tecido do SNC tem inclusões ubiquitinadas intranucleares proeminentes e positivas para TDP-43. A doença de Paget do osso se manifesta em aproximadamente 50% dos pacientes com idade semelhante à da miopatia. Os osteoclastos pagéticos também possuem inclusões nucleares e citosólicas ubiquitinadas. | |||
| description / en | description / en | ||
Autosomal dominantly inherited multisystem degenerative disorder caused by mutations in p97/VCP (valosin-containing protein). Myopathy is present in 90%of affected individuals, characterised 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. | |||
Revision as of 19:37, 16 August 2026
Autosomal dominantly inherited multisystem degenerative disorder caused by mutations in p97/VCP (valosin-containing protein). Myopathy is present in 90%of affected individuals, characterised 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1947548457 |
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| English | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
Autosomal dominantly inherited multisystem degenerative disorder caused by mutations in p97/VCP (valosin-containing protein). Myopathy is present in 90%of affected individuals, characterised 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. |
