ORPHA:62
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Synonyms: Alpha-sarcoglycan-related LGMD R3 · Alpha-sarcoglycanopathy · Autosomal recessive limb-girdle muscular dystrophy type 2D · LGMD due to alpha-sarcoglycan deficiency · LGMD type 2D · LGMD2D · Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2D
- 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 childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | Alpha-sarcoglycan-related LGMD R3 · Alpha-sarcoglycanopathy · Autosomal recessive limb-girdle muscular dystrophy type 2D · LGMD due to alpha-sarcoglycan deficiency · LGMD type 2D · LGMD2D · Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2D |
| fr | Dystrophie musculaire des ceintures liée à l'alpha-sarcoglycane R3 | Alpha-sarcoglycanopathie · Dystrophie musculaire des ceintures autosomique récessive type 2D · Dystrophie musculaire des ceintures par déficit en alpha-sarcoglycane · Dystrophie musculaire des ceintures type 2D · LGMD liée à l'alpha-sarcoglycane R3 · LGMD par déficit en alpha-sarcoglycane · LGMD type 2D · LGMD2D |
| de | Alpha-Sarkoglykan assoziierte Gliedergürtelmuskeldystrophie R3 | Alpha-Sarkoglykanopathie · Alpha-Sarkoglykanopathie-assoziierte LGMD R3 · Gliedergürtelmuskeldystrophie Typ 2D · Gliedergürtelmuskeldystrophie durch alpha-Sarkoglykan-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2D · LGMD Typ 2D · LGMD durch alpha-Sarkoglykan-Defizienz · LGMD2D |
| es | Distrofia muscular de cinturas R3 asociada a alfa-sarcoglicano | Alfa-sarcoglicocanopatía · Distrofia muscular de cinturas autosómica recesiva tipo 2D · Distrofia muscular de cinturas por deficiencia de alfa-sarcoglicano · LGMD2D |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2D | Alfa-sarcoglicanopatia · Distrofia musculare dei cingoli da deficit di alfa-sarcoglicano |
| nl | Alfa-sarcoglycaan-gerelateerde limb-girdle-spierdystrofie R3 | Alfa-sarcoglycaan-gerelateerde LGMD R3 · Alfa-sarcoglycanopathie · Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2D · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2D · Autosomaal recessieve limb-girdle-spierdystrofie type 2D · LGMD door alfa-sarcoglycaandeficiëntie · LGMD type 2D · LGMD2D · Limb-girdle-spierdystrofie door alfa-sarcoglycaandeficiëntie · Limb-girdle-spierdystrofie type 2D |
| pt | Distrofia muscular das cinturas dos membros R3 alfa-sarcoglicano-relacionada | Alfa-sarcoglicanopatia · Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2D · Distrofia muscular das cinturas dos membros por deficiência de alfa-sarcoglicano |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2D | Alfa-sarkoglikanopatia · Dystrofia obręczowo-kończynowa z powodu niedoboru alfa-sarkoglikanu · LGMD2D |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2D | Alfa-sarkoglykanopatie · LGMD2D · Pletencová svalová dystrofie způsobená deficitem alfa-sarkoglykanu |
| uk | Альфа-саркоглікан-залежна кінцівково-поясна м’язова дистрофія R3 | Альфа-саркогліканопатія · Альфа-саркоглікан-залежний LGMD R3 · Аутосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2D · LGMD внаслідок дефіциту альфа-саркогліканів · LGMD тип 2D · LGMD2D · Мязова дистрофія мязів поясу кінцівок внаслідок дефіциту альфа-саркоглікану · Мязова дистрофія мязів поясу кінцівок, тип 2D |
| zh | α-肌糖相关性肢带型肌营养不良R3 | 常染色体隐性肢带型肌营养不良2D型 |
| tr | Alfa-sarkoglikan-ilişkili ekstremite kavşak tip kas distrofisi R3 | LGMD2D · LGMD tip 2D · Alfa-sarkoglikanopati · Alfa-sarkoglikan-ilişkili LGMD R3 · Ekstremite-kuşak kas distrofisi tip 2D · Alfa-sarkoglikan eksikliğine bağlı LGMD · Otozomal Çekinik ekstremite-kuşak kas distrofisi tip 2D · Alfa-sarkoglikan eksikliğine bağlı ekstremite-kuşak kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608099 | E | validated | |
| ICD-10 | G71.0 | NTBT | inclusion | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0011968 | E | validated | |
| UMLS | C2936332 | E | validated | |
| GARD | 438 | 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:207060Qualitative or quantitative defects of alpha-sarcoglycan
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SGCA | Disease-causing germline mutation(s) in | Assessed | HGNC:10805 | ENSG00000108823 | 600119 | 17q21.33 | sarcoglycan alpha | 19798725[PMID]_21856579[PMID]_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 | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
14 annotations · validated 2018-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001771 | Achilles tendon contracture | |
| HP:0003707 | Calf muscle pseudohypertrophy | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002359 | Frequent falls | |
| HP:0003391 | Gowers sign | |
| HP:0003307 | Hyperlordosis | |
| HP:0006467 | Limited shoulder movement | |
| HP:0003560 | Muscular dystrophy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003691 | Scapular winging | |
| HP:0030051 | Tip-toe gait | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0002943 | Thoracic scoliosis | |
Annotation source: 22303798[PMID]_9585331[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/62
- This record as JSON: /data/d/62.json