ORPHA:353
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2C · Gamma-sarcoglycan-related LGMD R5 · Gamma-sarcoglycanopathy · LGMD due to gamma-sarcoglycan deficiency · LGMD type 2C · LGMD2C · Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2C
- 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 childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | Autosomal recessive limb-girdle muscular dystrophy type 2C · Gamma-sarcoglycan-related LGMD R5 · Gamma-sarcoglycanopathy · LGMD due to gamma-sarcoglycan deficiency · LGMD type 2C · LGMD2C · Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2C |
| fr | Dystrophie musculaire des ceintures liée au gamma-sarcoglycane R5 | LGMD type 2C · LGMD2C · Dystrophie musculaire des ceintures autosomique récessive type 2C · Dystrophie musculaire des ceintures par déficit en gamma-sarcoglycane · Dystrophie musculaire des ceintures type 2C · Gamma-sarcoglycanopathie · LGMD liée au gamma-sarcoglycane R5 · LGMD par déficit en gamma-sarcoglycane |
| de | Gamma-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R5 | Gamma-Sarkoglykan-assoziierte LGMD R5 · Gamma-Sarkoglykanopathie · Gliedergürtelmuskeldystrophie Typ 2C · Gliedergürtelmuskeldystrophie durch gamma-Sarkoglykan-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2C · LGMD Typ 2C · LGMD durch gamma-Sarkoglykan-Defizienz · LGMD2C |
| es | Distrofia muscular de cinturas R5 asociada a gamma-sarcoglicano | Distrofia muscular de cinturas autosómica recesiva tipo 2C · Distrofia muscular de cinturas por deficiencia de gamma-sarcoglicano · Gamma-sarcoglicocanopatía · LGMD2C |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2C | Distrofia muscolare dei cingoli da deficit di gamma-sarcoglicano · Gamma-sarcoglicanopatia · LGMD2C |
| nl | Gamma-sarcoglycaan-gerelateerde limb-girdle-spierdystrofie R5 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2C · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2C · Autosomaal recessieve limb-girdle-spierdystrofie type 2C · Gamma-sarcoglycaan-gerelateerde LGMD R5 · Gamma-sarcoglycanopathie · LGMD door gamma-sarcoglycaandeficiëntie · LGMD type 2C · LGMD2C · Limb-girdle-spierdystrofie door gamma-sarcoglycaandeficiëntie · Limb-girdle-spierdystrofie type 2C |
| pt | Distrofia muscular das cinturas dos membros R5 gama-sarcoglicano-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2C · Distrofia muscular das cinturas dos membros por deficiência de gama-sarcoglicano · Gama-sarcoglicanopatia |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2C | Dystrofia obręczowo-kończynowa z powodu niedoboru gamma-sarkoglikanu · Gamma-sarkoglikanopatia · LGMD2C |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2C | Gama-sakrokanalopatie · LGMD2C · Pletencová svalová dystrofie způsobená deficitem gama-sakroglykanu |
| uk | Гамма-саркоглікан-залежна кінцівково-поясна м’язова дистрофія R5 | Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2С · Гамма-саркогліканопатія · LGMD R5, повязаний з гамма-саркогліканом · LGMD внаслідок дефіциту гамма-саркоглікану · LGMD тип 2C · LGMD2C · Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту гамма-саркоглікану · Мязова дистрофія мязів поясу кінцівок, тип 2С |
| zh | R5型γ肌聚糖相关性肢带肌营养不良 | γ-肌聚糖病缺乏所致肢带型肌营养不良症 |
| tr | Gama-sarkoglikan--ilişkili ekstremite kavşak tip kas distrofisi R5 | LGMD2C · LGMD tipi 2C · Gama-sarkoglikanopati · Gama-sarkoglikan-ilişkili LGMD R5 · Ekstremite-kavşak tipi kas distrofisi tip 2C · Gama-sarkoglikan eksikliğine bağlı LGMD · Otozomal Çekinik ekstremite-kkavşak tipi kas distrofisi tip 2C · Gama-sarkoglikan eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253700 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0009677 | E | validated | |
| MeSH | C535900 | E | validated | |
| UMLS | C0410173 | E | validated | |
| GARD | 2429 | 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:207067Qualitative or quantitative defects of gamma-sarcoglycan
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SGCG | Disease-causing germline mutation(s) in | Assessed | HGNC:10809 | ENSG00000102683 | 608896 | 13q12.12 | sarcoglycan gamma | 20301582[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2011[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.18 / 100 000 | Japan | Value and class | Validated | 20350330[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.
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HPO phenotypes
27 annotations · validated 2018-05-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004311 | Abnormal macrophage morphology | |
| HP:0002136 | Broad-based gait | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0003707 | Calf muscle pseudohypertrophy | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0100284 | EMG: myotonic discharges | |
| HP:0003730 | EMG: myotonic runs | |
| HP:0030007 | EMG: positive sharp waves | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002359 | Frequent falls | |
| HP:0100297 | Increased endomysial connective tissue | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000158 | Macroglossia | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0003691 | Scapular winging | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0001771 | Achilles tendon contracture | |
| HP:0003391 | Gowers sign | |
| HP:0025169 | Left ventricular systolic dysfunction | |
| HP:0000276 | Long face | |
| HP:0003722 | Neck flexor weakness | |
| HP:0002650 | Scoliosis | |
| HP:0030051 | Tip-toe gait | |
Annotation source: 14660840[PMID]_11053682[PMID]_10720277[PMID]_11053682[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/353
- This record as JSON: /data/d/353.json