ORPHA:206647
Myotonic dystrophy
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myotonic dystrophy | |
| fr | Dystrophie myotonique | |
| de | Myotone Dystrophie | |
| es | Distrofia miotónica | |
| it | Distrofia miotonica | |
| nl | Myotone dystrofie | |
| pt | Distrofia miotónica | |
| pl | Dystrofia miotoniczna | |
| cs | Myotonická dystrofie | |
| uk | Міотонічна дистрофія | |
| zh | 强直性营养不良 | |
| tr | Miyotonik distrofi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.1 | E | specific | validated |
| ICD-11 | 8C71.0 | E | specific | validated |
| MONDO | 0016107 | E | validated | |
| MONDO | 16107 | E | validated | |
| MeSH | D009223 | E | validated | |
| UMLS | C0027126 | E | validated | |
| GARD | 10419 | E | validated | |
| MedDRA | 10068871 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:206970Myotonic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
12 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 189 / 100 000 | Specific population | Value and class | Validated | 2330114[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.7 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_25532075[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.78 / 100 000 | Europe | Value and class | Validated | ORPHANET_25532075[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.1 / 100 000 | Italy | Value and class | Validated | 25532075[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.5 / 100 000 | Japan | Value and class | Validated | 25532075[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.4 / 100 000 | Ireland | Value and class | Validated | 8845721[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.3 / 100 000 | Croatia | Value and class | Validated | 9088385[PMID]_25532075[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.6 / 100 000 | New Zealand | Value and class | Validated | 16964297[PMID]_25532075[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Finland | Value and class | Validated | 21364698[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.22 / 100 000 | Norway | Value and class | Validated | 3263224[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.9 / 100 000 | Spain | Value and class | Validated | 1369611[PMID]_25532075[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | United States | Value and class | Validated | 6333203[PMID]_25532075[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206647
- This record as JSON: /data/d/206647.json