ORPHA:280333
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Synonyms: Alpha-dystroglycan-related LGMD R16 · Autosomal recessive limb-girdle muscular dystrophy type 2P · LGMD type 2P · LGMD2P · Limb-girdle muscular dystrophy type 2P
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | Alpha-dystroglycan-related LGMD R16 · Autosomal recessive limb-girdle muscular dystrophy type 2P · LGMD type 2P · LGMD2P · Limb-girdle muscular dystrophy type 2P |
| fr | Dystrophie musculaire des ceintures liée à l'alpha dystroglycane R16 | Dystrophie musculaire des ceintures autosomique récessive type 2P · Dystrophie musculaire des ceintures type 2P · LGMD liée à l'alpha dystroglycane R16 · LGMD type 2P · LGMD2P |
| de | Alpha-Dystroglycan-assoziierte Gliedergürtelmuskeldystrophie R16 | Alpha-Dystroglycan-assoziierte LGMD R16 · Gliedergürtelmuskeldystrophie Typ 2P · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2P · LGMD Typ 2P · LGMD2P |
| es | Distrofia muscular de cinturas R16 asociada a alfa-distroglicano | Distrofia muscular de cinturas autosómica recesiva tipo 2P · LGMD2P |
| it | Distrofia muscolare dei cingoli autosomica recessiva, tipo 2P | LGMD2P |
| nl | Alfa-dystroglycaan-gerelateerde limb-girdle-spierdystrofie R16 | Alfa-dystroglycaan-gerelateerde LGMD R16 · Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2P · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2P · Autosomaal recessieve limb-girdle-spierdystrofie type 2P · LGMD type 2P · LGMD2P · Limb-girdle-spierdystrofie type 2P |
| pt | Distrofia muscular das cinturas dos membros R16 alfa-distroglicano-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva-distroglicanopatia tipo C7 · MDDGC7 |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2P | LGMD2P |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2P | LGMD2P |
| uk | Альфа-дистроглікан-залежна кінцівково-поясна мязова дистрофія R16 | Альфа-дистроглікан-залежний LGMD R16 · Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2Р · LGMD тип 2P · LGMD2P · Мязова дистрофія скелетних мязів кінцівок, тип 2Р |
| zh | 肢带型肌营养不良-抗肌萎缩相关糖蛋白病类型C9 | 常染色体隐性遗传2P型肢带型肌营养不良 |
| tr | Alfa-distroglikan-ilişkili ekstremite-kuşak kas distrofisi R16 | LGMD2P · LGMD tip 2P · Alfa-distroglikan-ilişkili LGMD R16 · Ekstremite-kuşak kas distrofisi tip 2P · Otozomal çekinik ekstremite-kavşak kas distrofisi tip 2P |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613818 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0013440 | E | validated | |
| UMLS | C4511963 | 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 (4):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:371040Primary qualitative or quantitative defects of alpha-dystroglycan
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DAG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2666 | ENSG00000173402 | 128239 | 3p21.31 | dystroglycan 1 | 14678799[PMID]_21388311[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 14678799[PMID]_21388311[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21388311[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
15 annotations · validated 2019-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0006785 | Limb-girdle muscular dystrophy | |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan | |
| Frequent (79-30%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001270 | Motor delay | |
| HP:0002317 | Unsteady gait | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0003707 | Calf muscle pseudohypertrophy | |
| HP:0003391 | Gowers sign | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0002465 | Poor speech | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22677325[PMID]_25503980[PMID]_14678799[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280333
- This record as JSON: /data/d/280333.json