inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Findings
No curated finding names inclusion body myopathy with Paget disease of bone and frontotemporal dementia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.
Definition from the Mondo Disease Ontology (MONDO:0000507), read 2026-09-29. CC BY 4.0.
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Distal muscle weaknessHPOHP:0002460
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- HyperlordosisHPOHP:0003307
- Very frequent (80% to 99% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Very frequent (80% to 99% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (4)
- inclusion body myopathy and brain white matter abnormalities
- inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
- inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Other names
6 names
Resolves to: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Also called
- IBMPFDinclusion body myopathy with early-onset Paget disease with or without frontotemporal dementiainclusion body myopathy/Paget disease/frontotemporal dementialimb-girdle muscular dystrophy with Paget disease of bonepagetoid amyotrophic lateral sclerosispagetoid neuroskeletal syndrome