ORPHA:219
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Synonyms: Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2F · Autosomal recessive limb-girdle muscular dystrophy type 2F · Delta-sarcoglycan-related LGMD R6 · Delta-sarcoglycanopathy · LGMD due to delta-sarcoglycan deficiency · LGMD type 2F · LGMD2F
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2F · Autosomal recessive limb-girdle muscular dystrophy type 2F · Delta-sarcoglycan-related LGMD R6 · Delta-sarcoglycanopathy · LGMD due to delta-sarcoglycan deficiency · LGMD type 2F · LGMD2F |
| fr | Dystrophie musculaire des ceintures liée au delta-sarcoglycane R6 | Delta-sarcoglycanopathie · Dystrophie musculaire des ceintures autosomique récessive type 2F · Dystrophie musculaire des ceintures par déficit en delta-sarcoglycane · Dystrophie musculaire des ceintures type 2F · LGMD liée au delta-sarcoglycane R6 · LGMD par déficit en delta-sarcoglycane · LGMD type 2F · LGMD2F |
| de | Delta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R6 | Delta-Sarkoglykan-assoziierte LGMD R6 · Delta-Sarkoglykanopathie · Gliedergürtelmuskeldystrophie Typ 2F · Gliedergürtelmuskeldystrophie durch delta-Sarkoglykan-Defizienz · Gliedergürtelmuskeldystrophie durch delta-Sarkoglykan-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2F · LGMD Typ 2F · LGMD durch delta-Sarkoglykan-Defizienz · LGMD2F |
| es | Distrofia muscular de cinturas R6 asociada a delta-sarcoglicano | Delta-sarcoglicocanopatía · Distrofia muscular de cinturas autosómica recesiva tipo 2F · Distrofia muscular de cinturas por deficiencia de delta-sarcoglicano · LGMD2F |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2F | Delta-sarcoglicanopatia · Distrofia muscolare dei cingoli da deficit di delta-sarcoglicano · LGMD2F |
| nl | Delta-sarcoglycaan-gerelateerde limb-girdle-spierdystrofie R6 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2F · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2F · Autosomaal recessieve limb-girdle-spierdystrofie type 2F · Delta-sarcoglycaan-gerelateerde LGMD R6 · Delta-sarcoglycanopathie · LGMD door delta-sarcoglycaandeficiëntie · LGMD type 2F · LGMD2F · Limb-girdle-spierdystrofie 2F · Limb-girdle-spierdystrofie door delta-sarcoglycaandeficiëntie |
| pt | Distrofia muscular das cinturas dos membros R6 delta-sarcoglicano-relacionada | Delta-sarcoglicanopatia · Distrofia muscular das cinturas dos membros por deficiência de delta-sarcoglicano · Distrofia muscular das cinturasdos membros autossómica recessiva tipo 2F |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu2F | Delta-sarkoglikanopatia · Dystrofia obręczowo-kończynowa z powodu niedoboru delta-sarkoglikanu · LGMD2F |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2F | Delta-sakroglykanopatie · LGMD2F · Pletencová svalová dystrofie způsobená deficitem delta-sakroglykanu |
| uk | Дельта-саркоглікан-залежна кінцівково-поясна м’язова дистрофія R6 | Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2F · Дельта-саркогліканопатія · LGMD R6, повязаний з дельта-саркогліканом · LGMD внаслідок дефіциту дельта-саркоглікану · LGMD тип 2F · LGMD2F · Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту дельта-саркоглікану · Мязова дистрофія мязів поясу кінцівок, тип 2F |
| zh | R6型Δ肌聚糖相关性肢带肌营养不良 | δ-肌聚糖病缺乏所致肢带型肌营养不良症 |
| tr | Delta-sarkoglikan--ilişkili ekstremite kavşak tip kas distrofisi R6 | LGMD2F · LGMD tipi 2F · Delta-sarkoglikanopati · Delta-sarkoglikan-ilişkili LGMD R6 · Ekstremite-kavşak tipi kas distrofisi tip 2F · Delta-sarkoglikan eksikliğine bağlı LGMD · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2F · Delta-sarkoglikan eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601287 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0011028 | E | validated | |
| MeSH | C535896 | E | validated | |
| UMLS | C1832525 | E | validated | |
| GARD | 8573 | 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 (3):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:217610Neuromuscular disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:207070Qualitative or quantitative defects of delta-sarcoglycan
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SGCD | Disease-causing germline mutation(s) in | Assessed | HGNC:10807 | ENSG00000170624 | 601411 | 5q33.2-q33.3 | sarcoglycan delta | 20301582[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2011[OTHER] |
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
6 annotations · validated 2018-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010628 | Facial palsy | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0008956 | Proximal lower limb amyotrophy | |
| HP:0008948 | Proximal upper limb amyotrophy | |
| HP:0003691 | Scapular winging | |
| HP:0002362 | Shuffling gait | |
Annotation source: 10735275[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/219
- This record as JSON: /data/d/219.json