ORPHA:599
Distal myopathy
Synonyms: Distal muscular dystrophy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal myopathy | Distal muscular dystrophy |
| fr | Myopathie distale | Dystrophie musculaire distale |
| de | Myopathie, distale | Muskeldystrophie, distale |
| es | Miopatía distal | Distrofia muscular distal |
| it | Miopatia distale | Distrofia muscolare distale |
| nl | Distale myopathie | Distale musculaire dystrofie · Distale spierdystrofie |
| pt | Miopatia distal | |
| pl | Miopatia dystalna | Dystalna dystrofia mięśniowa |
| cs | Distální myopatie | Svalová distální dystrofie |
| uk | Дистальна міопатія | Дистальна мязова дистрофія |
| zh | 远端型肌病 | 远端型肌营养不良症 |
| tr | Distal miyopati | Distal kaş distrofisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C75 | E | specific | validated |
| MONDO | 0018949 | E | validated | |
| MONDO | 18949 | E | validated | |
| MeSH | D049310 | E | validated | |
| UMLS | C0751336 | 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 (1):
- ORPHA:206634Genetic skeletal muscle disease
rare genetic diseases; rare neurological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.33 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID]_[EXPERT] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/599
- This record as JSON: /data/d/599.json