ORPHA:119
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2E · Beta-sarcoglycan-related LGMD R4 · Beta-sarcoglycanopathy · LGMD due to beta-sarcoglycan deficiency · LGMD type 2E · LGMD2E · Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2E
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | Autosomal recessive limb-girdle muscular dystrophy type 2E · Beta-sarcoglycan-related LGMD R4 · Beta-sarcoglycanopathy · LGMD due to beta-sarcoglycan deficiency · LGMD type 2E · LGMD2E · Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2E |
| fr | Dystrophie musculaire des ceintures liée au bêta-sarcoglycane R4 | Bêta-sarcoglycanopathie · Dystrophie musculaire des ceintures autosomique récessive type 2E · Dystrophie musculaire des ceintures par déficit en bêta-sarcoglycane · Dystrophie musculaire des ceintures type 2E · LGMD liée au bêta-sarcoglycane R4 · LGMD par déficit en bêta-sarcoglycane · LGMD type 2E · LGMD2E |
| de | Beta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R4 | Beta-Sarkoglykan-assoziierte LGMD R4 · Beta-Sarkoglykanopathie · Gliedergürtelmuskeldystrophie Typ 2E · Gliedergürtelmuskeldystrophie durch beta-Sarkoglykan-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2E · LGMD Typ 2E · LGMD durch beta-Sarkoglykan-Defizienz · LGMD2E |
| es | Distrofia muscular de cinturas R4 asociada a beta-sarcoglicano | Beta-sarcoglicocanopatía · Distrofia muscular de cinturas autosómica recesiva tipo 2E · Distrofia muscular de cinturas por deficiencia de beta-sarcoglicano · LGMD2E |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2E | LGMD2E · Beta-sarcoglicanopatia · Distrofia muscolare dei cingoli da deficit di beta-sarcoglicano |
| nl | Bèta-sarcoglycaan-gerelateerde limb-girdle-spierdystrofie R4 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2E · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2E · Autosomaal recessieve limb-girdle-spierdystrofie type 2E · Bèta-sarcoglycaan-gerelateerde LGMD R4 · Bèta-sarcoglycanopathie · LGMD door bèta-sarcoglycaandeficiëntie · LGMD type 2E · LGMD2E · Limb-girdle-spierdystrofie door bèta-sarcoglycaandeficiëntie · Limb-girdle-spierdystrofie type 2E |
| pt | Distrofia muscular das cinturas dos membros R4 beta-sarcoglicano-relacionada | Beta-sarcoglicanopatia · Distrofia muscular das cinturas dos membros por deficiência de beta-sarcoglicano · Distrofia muscular das cinturas dos memebros autossómica recessiva tipo 2E |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2E | Beta-sarkoglikanopatia · Dystrofia obręczowo-kończynowa z powodu niedoboru beta-sarkoglikanu · LGMD2E |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2E | Beta-sakroglykanopatie · LGMD2E · Pletencová svalová dystrofie způsobená deficitem beta-sakroglykanu |
| uk | Бета-саркоглікан-залежна мязова дистрофія скелетних мязів кінцівок R4 | Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2Е · Бета-саркогліканопатія · LGMD R4, повязаний з бета-саркогліканом · LGMD внаслідок дефіциту бета-саркогліканів · LGMD тип 2E · LGMD2E · Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту бета-саркогліканів · Мязова дистрофія мязів поясу кінцівок, тип 2Е |
| zh | R4型β肌聚糖相关性肢带肌营养不良 | β-肌聚糖病缺乏所致肢带型肌营养不良症 |
| tr | Beta-sarkoglikan--ilişkili ekstremite kavşak tip kas distrofisi R4 | LGMD2E · LGMD tip 2E · Beta-sarkoglikanopati · Beta-sarkoglikaN-ilişkili LGMD R4 · Ekstremite-kavşak tipi kas distrofisi tip 2E · Beta-sarkoglikan eksikliğine bağlı LGMD · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2E · Beta-sarkoglikan eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604286 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0011423 | E | validated | |
| MeSH | C535902 | E | validated | |
| UMLS | C1858593 | E | validated | |
| GARD | 3851 | 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:207063Qualitative or quantitative defects of beta-sarcoglycan
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SGCB | Disease-causing germline mutation(s) in | Assessed | HGNC:10806 | ENSG00000163069 | 600900 | 4q12 | sarcoglycan beta | 20301582[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 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
13 annotations · validated 2018-07-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002136 | Broad-based gait | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0003391 | Gowers sign | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0002058 | Myopathic facies | |
| HP:0003198 | Myopathy | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0002913 | Myoglobinuria | |
Annotation source: 15684453[PMID]_11369190[PMID]_10662809[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/119
- This record as JSON: /data/d/119.json