ORPHA:52430
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Synonyms: IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone · Pagetoid amyotrophic lateral sclerosis · Pagetoid neuroskeletal syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone · Pagetoid amyotrophic lateral sclerosis · Pagetoid neuroskeletal syndrome |
| fr | Syndrome de myopathie à inclusions-maladie de Paget-démence fronto-temporale | Dystrophie musculaire des ceintures avec maladie de Paget · IBMPFD · Sclérose latérale amyotrophique pagétoïde · Syndrome neuro-squelettique pagetoïde |
| de | Einschlusskörperchenmyopathie mit Paget-Syndrom und frontotemporaler Demenz | Gliedergürtelmuskeldystrophie mit Paget-Krankheit der Knochen · IBMPFD · Pagetoide amyotrophe Lateralsklerose |
| es | Miopatía por cuerpos de inclusión con enfermedad ósea de Paget y demencia frontotemporal | Disfrofia muscular de cinturas con enfermedad osea de Paget · Esclerosis lateral amiotrófica pagetoide · IBMPFD · Síndrome neuroesquelético pagetoide |
| it | Miopatia da corpi inclusi associata alla malattia ossea di Paget e demenza frontotemporale | IBMPFD · Sclerosi laterale amiotrofica pagetoide · Sindrome neuroscheletrica pagetoide · Distrofia muscolare dei cingoli con malattia ossea di Paget |
| nl | Inclusielichaammyopathie met botziekte van Paget en frontotemporale dementie | IBMPFD · Ledemaatgordel-spierdystrofie met botziekte van Paget · Limb-girdle-spierdystrofie met botziekte van Paget · Pagetoïd neuroskeletaal syndroom · Pagetoïde amyotrofe laterale sclerose · Pagetoïde amyotrofische laterale sclerose |
| pt | Miopatia com corpos de inclusão - doença de Paget - demência fronto-temporal | |
| pl | Miopatia z ciałkami wtrętowymi z chorobą Pageta i demencją czołowo-skroniową | Dystrofia obręczowo-kończynowa z chorobą Pageta · IBMPFD · Pagetoidalne stwardnienie zanikowe boczne · Pagetoidalny zespół neuro-szkieletowy · IBMPFD · Pagetoidalny zespół nerwowo-szkieletowy · Pagetoidalne stwardnienie zanikowe boczne · Dystrofia obręczowo-kończynowa z chorobą Pageta |
| cs | Myopatie s inkluzními tělísky s Pagetovou kostní chorobou a frontotemporální demencí | IBMPFD · Pletencová svalová dystrofie s Pagetovou kostní chorobou · Pagetoidní amyotrofická laterální skleróza · Pagetoidní neuroskeletální syndrom |
| uk | Міопатія з тільцями включення з хворобою Педжета та лобно-скроневою деменцією | IBMPFD · Мязова дистрофія мязів поясу кінцівок з хворобою Педжета · Бічний аміотрофічний склероз Паджето · Нейроскелетний синдром Паджето |
| zh | 包涵体肌病伴骨Paget病和额颞部痴呆 | Paget病样肌萎缩侧索硬化 |
| tr | Kemik Paget hastalığı ve frontotemporal demans ile birlikte vücut miyopatisi | Kemiğin Paget hastalığı ile seyreden ekstremite-kavşak tipi kas distrofisi · IBMPFD · Pagetoid nöroskeletal sendrom · Pagetoid amyotrofik lateral skleroz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167320 | E | validated | |
| OMIM | 615422 | BTNT | validated | |
| OMIM | 615424 | BTNT | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 4A41.21 | NTBT | index | validated |
| MONDO | 0000507 | E | validated | |
| MeSH | C563476 | E | validated | |
| UMLS | C1833662 | E | validated | |
| GARD | 10899 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98535Frontotemporal degeneration with dementia
rare neurological diseases - ORPHA:276061Genetic frontotemporal degeneration with dementia
rare genetic diseases - ORPHA:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:54238Myotonic dystrophy type 3 moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNRNPA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5031 | ENSG00000135486 | 164017 | 12q13.13 | heterogeneous nuclear ribonucleoprotein A1 | 23455423[PMID] |
| HNRNPA2B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5033 | ENSG00000122566 | 600124 | 7p15.2 | heterogeneous nuclear ribonucleoprotein A2/B1 | 23455423[PMID] |
| VCP | Disease-causing germline mutation(s) in | Assessed | HGNC:12666 | ENSG00000165280 | 601023 | 9p13.3 | valosin containing protein | 15034582[PMID]_20301649[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 families | Worldwide | Family(ies) | Validated | 20301649[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301649[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
43 annotations · validated 2017-10-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002460 | Distal muscle weakness | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003307 | Hyperlordosis | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0012083 | Ubiquitin-positive cerebral inclusion bodies | |
| HP:0002515 | Waddling gait | |
| Frequent (79-30%) | ||
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0012444 | Brain atrophy | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002145 | Frontotemporal dementia | |
| HP:0030838 | Hip pain | |
| HP:0002797 | Osteolysis | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002450 | Abnormal motor neuron morphology | |
| HP:0011314 | Abnormality of long bone morphology | |
| HP:0002683 | Abnormality of the calvaria | |
| HP:0007354 | Amyotrophic lateral sclerosis | |
| HP:0002381 | Aphasia | |
| HP:0004490 | Calvarial hyperostosis | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0001635 | Congestive heart failure | |
| HP:0001293 | Cranial nerve compression | |
| HP:0002442 | Dyscalculia | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0002380 | Fasciculations | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0002300 | Mutism | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| HP:0004347 | Weakness of muscles of respiration | |
| Very rare (<4-1%) | ||
| HP:0002756 | Pathologic fracture | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 20301649[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52430
- This record as JSON: /data/d/52430.json