Myofibrillar myopathy
Synonyms: MFM
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myofibrillar myopathy | MFM |
| fr | Myopathie myofibrillaire | |
| de | Myopathie, myofibrilläre | = en |
| es | Miopatía miofibrilar | MFM · MMF |
| it | Miopatia miofibrillare | MFN |
| nl | Myofibrillaire myopathie | = en |
| pt | Miopatia miofibrilar | = en |
| pl | Miopatia miofibrylarna | = en |
| cs | Myofibrilární myopatie | = en |
| uk | Міофібрилярна міопатія | = en |
| zh | 肌原纤维肌病 | |
| tr | Miyofibriler miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C76 | E | specific | validated |
| MONDO | 0018943 | E | validated | |
| MONDO | 18943 | E | validated | |
| MeSH | C580316 | E | validated | |
| UMLS | C2678065 | E | validated | |
| GARD | 10529 | E | validated | |
| MedDRA | 10087101 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases
Children (11):
- ORPHA:98910Alpha-crystallinopathy
- ORPHA:708133Autosomal dominant ACTN2-related distal myopathy
- ORPHA:199340BAG3-related myofibrillar myopathy
- ORPHA:708126DNAJB6-related distal myopathy
- ORPHA:98909Desminopathy
- ORPHA:476093HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
- ORPHA:476403Hypercontractile muscle stiffness syndrome
- ORPHA:496686Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
- ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type
- ORPHA:171445Muscle filaminopathy
- ORPHA:209224Myotilinopathy
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/593
- This record as JSON: /data/d/593.json