ORPHA:267
Calpain-3-related limb-girdle muscular dystrophy R1
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2A · Calpain-3-related LGMD R1 · LGMD type 2A · LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency · Limb-girdle muscular dystrophy type 2A · Primary calpainopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Calpain-3-related limb-girdle muscular dystrophy R1 | Autosomal recessive limb-girdle muscular dystrophy type 2A · Calpain-3-related LGMD R1 · LGMD type 2A · LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency · Limb-girdle muscular dystrophy type 2A · Primary calpainopathy |
| fr | Dystrophie musculaire des ceintures liée à la calpaïne-3 R1 | Calpaïnopathie primaire · Dystrophie musculaire des ceintures autosomique récessive type 2A · Dystrophie musculaire des ceintures par déficit en calpaïne · Dystrophie musculaire des ceintures type 2A · LGMD liée à la calpaïne-3 R1 · LGMD type 2A · LGMD2A |
| de | Calpain-3-assoziierte Gliedergürtelmuskeldystrophie R1 | Calpain-3-assoziierte LGMD R1 · Calpainopathie, primäre · Gliedergürtelmuskeldystrophie Typ 2A · Gliedergürtelmuskeldystrophie durch Calpain-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2A · LGMD Typ 2A · LGMD durch Calpain-3-Defizienz · LGMD2A |
| es | Distrofia muscular de cinturas R1 asociada a calpaína 3 | Calpainopatía primaria · Distrofia muscular de cinturas autosómica recesiva tipo 2A · Distrofia muscular de cinturas por deficiencia de calpaína · LGMD2A |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2A | Calpainopatia primitiva · Distrofia musculare dei cingoli da deficit di calpaina · LGMD2A |
| nl | Calpaïne-3-gerelateerde limb-girdle-spierdystrofie R1 | Calpaïne-3-gerelateerde LGMD R1 · LGMD door calpaïnedeficiëntie · LGMD type 2A · LGMD2A · Limb-girdle-spierdystrofie door calpaïnedeficiëntie · Limb-girdle-spierdystrofie type 2A · Primaire calpaïnopathie · Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2A · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2A · Autosomaal recessieve limb-girdle-spierdystrofie type 2A |
| pt | Distrofia muscular das cinturas dos membros R1 calpaina-3-relacionada | Calpainopatia primária · Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2A · Distrofia muscular das cinturas dos membros por deficiência de calpaina |
| pl | Autosomalna recessywna dystrofia obręczowo-kończynowa typu 2A | Dystrofia obręczowo-kończynowa z powodu niedoboru kalpainy · Kalpainopatia pierwotna · LGMD2A |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2A | LGMD2A · Pletencová svalová dystrofie zpusobená deficitem kalpainu · Primární kalpainopatie · Pletencová svalová dystrofie způsobená deficitem kalpainu |
| uk | Кальпаїн-3-залежна кінцівково-поясна м’язова дистрофія R1 | Аутосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2А · LGMD R1, повязаний з кальпаїном-3 · LGMD тип 2A · LGMD2A · Мязова дистрофія мязів поясу кінцівок внаслідок дефіциту кальпаїну · Мязова дистрофія мязів поясу кінцівок, тип 2А · Первинна кальпаїнопатія |
| zh | 钙蛋白酶3相关肢带肌营养不良 | 常染色体隐性肢带肌营养不良2A型 |
| tr | Kalpain-3--ilişkili ekstremite kavşak tip kas distrofisi R1 | LGMD2A · LGMD tip 2A · Primer kalpainopati · Kalpain-3-ilgili LGMD R1 · Ekstremite kavşak tip kas distrofilsi tip 2A · Kalpain eksikliğine bağlı ekstremite-kuşak kas distrofisi · Otozomal Çekinik ekstremite-kuşak kas distrofisi tip 2A |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253600 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0009675 | E | validated | |
| MeSH | C535895 | E | validated | |
| UMLS | C1869123 | E | validated | |
| GARD | 1057 | 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 (2):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:207104Qualitative or quantitative defects of calpain
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAPN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1480 | ENSG00000092529 | 114240 | 15q15.1 | calpain 3 | 20301582[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2006[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.8 / 100 000 | Reunion | Value and class | Validated | 8624690[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.65 / 100 000 | Italy | Value and class | Not yet validated | ORPHANET_15725583[PMID]_16141003[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
21 annotations · validated 2018-07-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003324 | Generalized muscle weakness | |
| Frequent (79-30%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0005879 | Congenital finger flexion contractures | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0003089 | Hamstring contractures | |
| HP:0003307 | Hyperlordosis | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003560 | Muscular dystrophy | |
| HP:0012037 | Pectoralis amyotrophy | |
| HP:0008946 | Pelvic girdle amyotrophy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0009060 | Scapular muscle atrophy | |
| HP:0003691 | Scapular winging | |
| HP:0003306 | Spinal rigidity | |
| HP:0030051 | Tip-toe gait | |
| Occasional (29-5%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0001239 | Wrist flexion contracture | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 15694138[PMID]_10069710[PMID]_19364062[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/267
- This record as JSON: /data/d/267.json