ORPHA:98895
Becker muscular dystrophy
Synonyms: BMD · Becker dystrophinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Becker muscular dystrophy | BMD · Becker dystrophinopathy |
| fr | Dystrophie musculaire de Becker | BMD · DMB · Dystrophinopathie de Becker |
| de | Muskeldystrophie Typ Becker | Dystrophinopathie vom Typ Becker |
| es | Distrofia muscular de Becker | Distrofinopatía de Becker |
| it | Distrofia muscolare di Becker | Distrofinopatia di Becker |
| nl | Spierdystrofie van Becker | BMD · Dystrofinopathie, Becker-type |
| pt | Distrofia muscular, tipo Becker | |
| pl | Dystrofia mięśniowa Beckera | BMD · Dystrofinopatia Beckera |
| cs | Beckerova svalová dystrofie | BMD · Beckerova dystrofinopatie |
| uk | Мязова дистрофія Беккера | Дистрофінопатія Беккера · BMD |
| zh | 贝克肌营养不良症 | 贝克肌营养不良 |
| tr | Becker kas distrofisi | BMD · Becker distrofinopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 159050 | BTNT | validated | |
| OMIM | 300376 | E | validated | |
| ICD-10 | G71.0 | NTBT | inclusion | validated |
| ICD-11 | 8C70.0 | E | specific | validated |
| MONDO | 0010311 | E | validated | |
| UMLS | C0917713 | E | validated | |
| GARD | 5900 | E | validated | |
| MedDRA | 10059117 | 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:262Duchenne and Becker muscular dystrophy
rare cardiac diseases; rare genetic diseases; rare neurological diseases; rare transplant-related disorders - ORPHA:207085Qualitative or quantitative defects of dystrophin
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DMD | Disease-causing germline mutation(s) in | Assessed | HGNC:2928 | ENSG00000198947 | 300377 | Xp21.2-p21.1 | dystrophin |
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Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.7 / 100 000 | United Kingdom | Value and class | Validated | 1673177[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.64 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID]_24780148[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | United States | Value and class | Validated | 12495984[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.4 / 100 000 | United States | Value and class | Not yet validated | emedicine[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1.42 / 100 000 | Puerto rico | Value and class | Validated | DOI:10.3233/JND-160147[OTHER] |
| Point prevalence | 1-9 / 100 000 | 1.53 / 100 000 | Worldwide | Value and class | Not yet validated | 24780148[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.47 / 100 000 | Italy | Value and class | Validated | 10466417[PMID]_24780148[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.94 / 100 000 | Egypt | Value and class | Validated | 16210862[PMID]_24780148[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.91 / 100 000 | Japan | Value and class | Validated | 1745328[PMID]_24780148[PMID]_ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | South Africa | Value and class | Validated | 7825085[PMID]_24780148[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.59 / 100 000 | Ireland | Value and class | Validated | 8845721[PMID]_24780148[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
16 annotations · validated 2017-03-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012086 | Abnormal urinary color | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003546 | Exercise intolerance | |
| HP:0001288 | Gait disturbance | |
| HP:0003326 | Myalgia | |
| HP:0002913 | Myoglobinuria | |
| Frequent (79-30%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002527 | Falls | |
| HP:0012378 | Fatigue | |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| Occasional (29-5%) | ||
| HP:0001763 | Pes planus | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0030051 | Tip-toe gait | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 19396825[PMID]_23667215[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98895
- This record as JSON: /data/d/98895.json