Muscle filaminopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MYOPATHY, MYOFIBRILLAR, FILAMIN C-RELATED FILAMINOPATHY, AUTOSOMAL DOMINANT MFM5 |
| Number of Symptoms | 24 |
| OrphanetNr: | 171445 |
| OMIM Id: |
609524
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| 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 inheritance [Omim] |
| Age of onset: |
Adult onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Myofibrillar myopathy
-Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of filamin C -Rare genetic disease |
Symptom Information:
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(HPO:0002515) | Waddling gait | 56 / 7739 | ||||
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(HPO:0000759) | Abnormal peripheral nervous system morphology | 4 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | 410 / 7739 | ||||
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(HPO:0003715) | Myofibrillar myopathy | 9 / 7739 | ||||
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(HPO:0003555) | Muscle fiber splitting | 11 / 7739 | ||||
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(HPO:0003551) | Difficulty climbing stairs | 23 / 7739 | ||||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(HPO:0100303) | Muscle fiber cytoplasmatic inclusion bodies | 3 / 7739 | ||||
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(OMIM) | Abnormal aggregates of desmin and filamin C | 1 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Peripheral nerve involvement may occur | 1 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(OMIM) | Lower limbs more affected than upper limbs | 5 / 7739 | ||||
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(OMIM) | Necrotic fibers | 2 / 7739 | ||||
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(OMIM) | Distal muscles may be affected | 1 / 7739 | ||||
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(OMIM) | Muscle biopsy shows myofibrillar myopathy | 2 / 7739 | ||||
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(OMIM) | Nemaline rod formation | 1 / 7739 | ||||
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(OMIM) | Increased internal nuclei | 1 / 7739 | ||||
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(OMIM) | Electron microscopy showed Z-disk streaming | 1 / 7739 | ||||
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(OMIM) | Abnormal muscle fibers with amorphous, granular, or hyaline deposits | 2 / 7739 | ||||
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(OMIM) | Intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates | 1 / 7739 | ||||
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(OMIM) | Muscle weakness, proximal, slowly progressive | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Vorgerd et al. (2005) reported a German family in which 17 members had adult-onset of slowly progressive skeletal muscle weakness with autosomal dominant inheritance. Although most patients had proximal involvement of the lower limbs with lesser involvement of ... |
| Molecular genetics OMIM |
In affected members of a German family with autosomal dominant MFM, Vorgerd et al. (2005) identified a heterozygous mutation in the FLNC gene (102565.0001). In a German mother and daughter with adult-onset limb-girdle muscle weakness, Shatunov ... |