Duchenne and Becker muscular dystrophy
Synonyms: Severe dystrophinopathy, Duchenne and Becker type
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Duchenne and Becker muscular dystrophy | Severe dystrophinopathy, Duchenne and Becker type |
| fr | Dystrophie musculaire de Duchenne et Becker | Dystrophinopathie de Duchenne et Becker · Myopathie de Duchenne et Becker |
| de | Duchenne- und Becker-Muskeldystrophie | Schwere Dystrophinopathie vom Typ Duchenne und Becker |
| es | Distrofia muscular de Duchenne y Becker | Distrofinopatía de Duchenne y Becker |
| it | Distrofia muscolare di Duchenne e Becker | Distrofinopatia di Duchenne e Becker |
| nl | Spierdystrofie van Duchenne en Becker | Ernstige dystrofinopathie, Duchenne en Becker-type |
| pt | Distrofia muscular de Duchenne e Becker | Distrofinopatia |
| pl | Dystrofia mięśniowa Duchenne'a i Beckera | Ciężka dystrofinopatia typu Duchenne'a i Beckera |
| cs | Duchennova a Beckerova svalová dystrofie | Težká dystrofinopatie, Duchennův a Beckerův typ |
| uk | Мязова дистрофія Дюшена та Беккера | Тяжка дистрофінопатія, Дюшена та Беккера типу |
| zh | 杜氏/贝氏肌营养不良 | 重型抗肌萎缩蛋白病，杜氏/贝氏型 |
| tr | Duchenne ve Becker kas distrofisi | Ağır distrofinopati, Duchenne ve Becker tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16899 | E | validated | |
| UMLS | C3542021 | 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:217610Neuromuscular disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.23 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | — | United States | Class only | Validated | 25687144[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/262
- This record as JSON: /data/d/262.json