BVES-related limb-girdle muscular dystrophy
Synonyms: Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome · BVES-related LGMD · LGMD R25 BVES-related · LGMD type 2X · LGMD2X · Limb-girdle muscular dystrophy 2X
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BVES-related limb-girdle muscular dystrophy | Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome · BVES-related LGMD · LGMD R25 BVES-related · LGMD type 2X · LGMD2X · Limb-girdle muscular dystrophy 2X |
| fr | Dystrophie musculaire des ceintures associée à BVES | Dystrophie musculaire des ceintures 2X · LGMD R25 associée à BVES · LGMD associée à BVES · LGMD type 2X · LGMD2X · Syndrome autosomique récessive de dystrophie musculaire des ceintures-arythmie cardiaque |
| de | Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2X | Autosomal-rezessive Gliedergürtelmuskeldystrophie-Herzrhythmusstörung-Syndrom · LGMD2X |
| es | Distrofia muscular de cinturas autosómica recesiva tipo 2X | LGMD2X · Síndrome de arritmia cardíaca-distrofia muscular de cinturas autosómica recesiva |
| it | Distrofia muscolare dei cingoli autosomica recessiva tipo 2X | |
| nl | Autosomaal recessieve limb-girdle-spierdystrofie type 2X | Autosomaal recessieve ledemaatgordel-spierdystrofie type 2X · Autosomaal recessieve limb-girdle-spierdystrofie - hartritmestoornis-syndroom · LGMD2X · Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2X |
| pt | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2X | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2X |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2X | LGMD2X · Zespół autosomalnej recesywnej dystrofii obręczowo-kończynowej i arytmii serca |
| cs | Autozomálně recesivní pletencová svalová dystrofie typ 2X | LGMD2X · Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome · Autozomálně recesivní syndrom svalové dystrofie končetin a srdeční arytmie |
| uk | Кінцівково-поясна мязова дистрофія, повязана з BVES | Синдром аутосомно-рецесивної мязової дистрофії поясу кінцівок - серцевої аритмії · LGMD, повязаний з BVES · LGMD R25, повязаний з BVES · LGMD тип 2X · LGMD2X · Дистрофія мязів поясу кінцівок 2Х |
| zh | BVES相关的肢带肌营养不良症 | 常染色体隐性肢带肌营养不良症-心律失常综合征 |
| tr | BVES -ilişkili ekstremite kavşak tip kas distrofisi | LGMD2X · LGMD tip 2X · BVES-ilişkili LGMD · Ekstremite-kavşak kas distrofisi 2X · Otozomal çekinik ekstremite-kavşak kas distrofisi-kardiyak aritmi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616812 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0014782 | E | validated | |
| UMLS | C5568138 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POPDC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1152 | ENSG00000112276 | 604577 | 6q21 | popeye domain cAMP effector 1 | 26642364[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26642364[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26642364[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/476084
- This record as JSON: /data/d/476084.json