Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IBMPFD Limb-girdle muscular dystrophy with Paget disease of bone Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome |
| Number of Symptoms | 26 |
| OrphanetNr: | 52430 |
| OMIM Id: |
167320
615422 615424 |
| ICD-10: |
G71.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Frontotemporal degeneration with dementia
-Rare neurologic disease Inclusion myopathy -Rare genetic disease -Rare neurologic disease Primary bone dysplasia with disorganized development of skeletal components -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0010628) | Facial palsy | rare [HPO:skoehler] | 146 / 7739 | |||
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(HPO:0001332) | Dystonia | 197 / 7739 | ||||
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(HPO:0002357) | Dysphasia | 33 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0007354) | Amyotrophic lateral sclerosis | 25 / 7739 | ||||
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(HPO:0002145) | Frontotemporal dementia | 14 / 7739 | ||||
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(HPO:0003418) | Back pain | 17 / 7739 | ||||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0002644) | Abnormality of pelvic girdle bone morphology | 31 / 7739 | ||||
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(HPO:0003691) | Scapular winging | 51 / 7739 | ||||
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(HPO:0003547) | Shoulder girdle muscle weakness | 21 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0010639) | Elevated alkaline phosphatase of bone origin | 3 / 7739 | ||||
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(HPO:0008988) | Pelvic girdle muscle atrophy | 5 / 7739 | ||||
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(HPO:0003551) | Difficulty climbing stairs | 23 / 7739 | ||||
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(HPO:0003690) | Limb muscle weakness | 41 / 7739 | ||||
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(HPO:0003724) | Shoulder girdle muscle atrophy | 14 / 7739 | ||||
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(HPO:0003749) | Pelvic girdle muscle weakness | 15 / 7739 | ||||
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(HPO:0003198) | Myopathy | 151 / 7739 | ||||
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(HPO:0003805) | Rimmed vacuoles | 22 / 7739 | ||||
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(HPO:0008946) | Pelvic girdle amyotrophy | 2 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0006913) | Frontal cortical atrophy | 2 / 7739 | ||||
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(HPO:0007112) | Temporal cortical atrophy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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