Focal myositis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MYOPATHY, FAMILIAL IDIOPATHIC INFLAMMATORY IIM Focal nodular myositis Inflammatory pseudotumor of skeletal muscle |
| Number of Symptoms | 10 |
| OrphanetNr: | 48918 |
| OMIM Id: |
160750
|
| ICD-10: |
M60.8 |
| UMLs: |
C0751357 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 115 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Idiopathic inflammatory myopathy
-Rare neurologic disease |
Symptom Information:
|
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(HPO:0001387) | Joint stiffness | Occasional [Orphanet] | 322 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
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(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
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(HPO:0100614) | Myositis | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0003326) | Myalgia | Occasional [Orphanet] | 143 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Occasional [Orphanet] | 859 / 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:0030089) | Abnormal muscle fiber protein expression | Frequent [Orphanet] | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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