ORPHA:263
Limb-girdle muscular dystrophy
Synonyms: LGMD
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Limb-girdle muscular dystrophy | LGMD |
| fr | Dystrophie musculaire des ceintures | = en |
| de | Gliedergürtelmuskeldystrophie | = en |
| es | Distrofia muscular de cinturas | = en |
| it | Distrofia muscolare dei cingoli | = en |
| nl | Limb-girdle-spierdystrofie | Bekken- en schoudergordel-spierdystrofie · LGMD · Ledemaatgordel-spierdystrofie |
| pt | Distrofia muscular das cinturas | |
| pl | Dystrofia obręczowo-kończynowa | = en |
| cs | Pletencová svalová dystrofie | = en |
| uk | Кінцівково-поясна м’язова дистрофія | = en |
| zh | 肢带肌营养不良 | = en |
| tr | Ekstremite-kavşak tip kas distrofisi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C70.4 | E | specific | validated |
| MONDO | 0016971 | E | validated | |
| MONDO | 16971 | E | validated | |
| MeSH | D049288 | E | validated | |
| UMLS | C0686353 | E | validated | |
| GARD | 6907 | 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 (1):
- 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
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.81 / 100 000 | Netherlands | Value and class | Validated | 8931572[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.27 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Lifetime Prevalence | 1-9 / 100 000 | 5.7 / 100 000 | Egypt | Value and class | Validated | 16210862[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.9 / 100 000 | Spain | Value and class | Validated | 9762961[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | Ireland | Value and class | Validated | 8845721[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.55 / 100 000 | Japan | Value and class | Validated | 1745328[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.32 / 100 000 | Worldwide | Value and class | Validated | 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/263
- This record as JSON: /data/d/263.json