ORPHA:268
Dysferlin-related limb-girdle muscular dystrophy R2
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2B · Dysferlin-related LGMD R2 · LGMD due to dysferlin deficiency · LGMD type 2B · LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency · Limb-girdle muscular dystrophy type 2B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysferlin-related limb-girdle muscular dystrophy R2 | Autosomal recessive limb-girdle muscular dystrophy type 2B · Dysferlin-related LGMD R2 · LGMD due to dysferlin deficiency · LGMD type 2B · LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency · Limb-girdle muscular dystrophy type 2B |
| fr | Dystrophie musculaire des ceintures liée à la dysferline R2 | Dystrophie musculaire des ceintures autosomique récessive type 2B · Dystrophie musculaire des ceintures par déficit en dysferline · Dystrophie musculaire des ceintures type 2B · LGMD liée à la dysferline R2 · LGMD par déficit en dysferline · LGMD type 2B · LGMD2B |
| de | Dysferlin-assoziierte Gliedergürtelmuskeldystrophie R2 | Dysferlin-assoziierte LGMD R2 · Dysferlinopathie · Gliedergürtelmuskeldystrophie Typ 2B · Gliedergürtelmuskeldystrophie durch Dysferlin-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2B · LGMD Typ 2B · LGMD durch Dysferlin-Defizienz · LGMD2B |
| es | Distrofia muscular de cinturas R2 asociada a disferlina | Distrofia muscular de cinturas autosómica recesiva tipo 2B · Distrofia muscular de cinturas por deficiencia de disferlina · LGMD2B |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2B | Distrofia muscolare dei cingoli da deficit di disferlina · LGMD2B |
| nl | Dysferline-gerelateerde limb-girdle-spierdystrofie R2 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2B · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2B · Autosomaal recessieve limb-girdle-spierdystrofie type 2B · Dysferline-gerelateerde LGMD R2 · LGMD door dysferlinedeficiëntie · LGMD type 2B · LGMD2B · Limb-girdle-spierdystrofie door dysferlinedeficiëntie · Limb-girdle-spierdystrofie type 2B |
| pt | Distrofia muscular das cinturas dos membros R2 disferlina-relacionada | Disferlinopatia · Distrofia muscular das cinturas dos membros por deficiência de disferlina · Distrofia muscular das cinturas dosmembros autossómica recessiva tipo 2B |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2B | Dystrofia obręczowo-kończynowa z powodu niedoboru dysferliny · LGMD2B |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2B | LGMD2B · Pletencová svalová dystrofie způsobená deficitem dysferlinu |
| uk | Дисферлінова кінцівково-поясна м’язова дистрофія R2 | Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2B · Дисферлін-залежний LGMD R2 · LGMD внаслідок дефіциту дисферліну · LGMD тип 2B · LGMD2B · Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту дизферліну · Мязова дистрофія скелетних мязів кінцівок, тип 2B |
| zh | R2型Dysferlin相关肢带肌营养不良 | Dysferlin缺乏所致肢带肌营养不良 |
| tr | Disferlin--ilişkili ekstremite kavşak tip kas distrofisi R2 | LGMD2B · LGMD tipi 2B · Disferlin-ilişkili LGMD R2 · Disferlin eksikliğine bağlı LGMD · Ekstremite-kavşak tipi kas distrofisi tip 2B · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2B · Disferlin eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253601 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0009676 | E | validated | |
| MeSH | C535899 | E | validated | |
| UMLS | C1850889 | E | validated | |
| GARD | 8574 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:207073Qualitative or quantitative defects of dysferlin
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYSF | Disease-causing germline mutation(s) in | Assessed | HGNC:3097 | ENSG00000135636 | 603009 | 2p13.2 | dysferlin | 20301582[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
6
HPO phenotypes
29 annotations · validated 2019-08-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| Frequent (79-30%) | ||
| HP:0007340 | Lower limb muscle weakness | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| Occasional (29-5%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0001640 | Cardiomegaly | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0003307 | Hyperlordosis | |
| HP:0100748 | Muscular edema | |
| HP:0003722 | Neck flexor weakness | |
| HP:0001761 | Pes cavus | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0011712 | Right bundle branch block | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0003691 | Scapular winging | |
| Very rare (<4-1%) | ||
| HP:0045054 | Brachial plexus neuropathy | |
| HP:0002072 | Chorea | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0002015 | Dysphagia | |
| HP:0002540 | Inability to walk | |
| HP:0002996 | Limited elbow movement | |
| HP:0008800 | Limited hip movement | |
| HP:0005085 | Limited knee flexion/extension | |
| HP:0100515 | Pollakisuria | |
| HP:0003306 | Spinal rigidity | |
| HP:0030051 | Tip-toe gait | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23243261[PMID]_29794729[PMID]_19084402[PMID]_20301480[PMID]_10766988[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268
- This record as JSON: /data/d/268.json