ORPHA:98896
Duchenne muscular dystrophy
Synonyms: DMD · Severe dystrophinopathy, Duchenne type
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Duchenne muscular dystrophy | DMD · Severe dystrophinopathy, Duchenne type |
| fr | Dystrophie musculaire de Duchenne | DMD · Dystrophinopathie de Duchenne |
| de | Muskeldystrophie Typ Duchenne | DMD · Duchenne-Muskeldystrophie · Dystrophinopathie vom Typ Duchenne · Schwere Dystrophinopathie vom Typ Duchenne |
| es | Distrofia muscular de Duchenne | DMD · Distrofinopatía grave tipo Duchenne |
| it | Distrofia muscolare di Duchenne | DMD · Distrofinopatia grave, tipo Duchenne |
| nl | Spierdystrofie van Duchenne | DMD · Ernstige dystrofinopathie, Duchenne-type |
| pt | Distrofia muscular, tipo Duchenne | |
| pl | Dystrofia mięśniowa Duchenne'a | Ciężka dystrofinopatia, typu Duchenne'a · DMD |
| cs | Duchennova muskulární dystrofie | DMD · Vážná dystrofinopatie, Duchennův typ |
| uk | Мязова дистрофія Дюшена | DMD · Тяжка дистрофінопатія, тип Дюшена |
| zh | 杜氏肌营养不良症 | 重型杜氏肌营养不良 |
| tr | Duchenne kas distrofisi | DMD · Ağır distrofinopati, Duchenne tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 310200 | E | validated | |
| ICD-10 | G71.0 | NTBT | inclusion | validated |
| ICD-11 | 8C70.1 | E | specific | validated |
| MONDO | 0010679 | E | validated | |
| MeSH | D020388 | E | validated | |
| UMLS | C0013264 | E | validated | |
| GARD | 6291 | E | validated | |
| MedDRA | 10013801 | 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 (5):
- 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 - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 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 | |
| LTBP4 | Modifying germline mutation in | Assessed | HGNC:6717 | ENSG00000090006 | 604710 | 19q13.2 | latent transforming growth factor beta binding protein 4 | 23440719[PMID] |
5
Prevalence and incidence
15 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 9.9 / 100 000 | Worldwide | Value and class | Validated | 32503598[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.14 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID]_24780148[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 14 / 100 000 | United States | Value and class | Validated | 12495984[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 12 / 100 000 | Netherlands | Value and class | Validated | 1733827[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10.5 / 100 000 | Canada | Value and class | Validated | 20080524[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.7 / 100 000 | United Kingdom | Value and class | Validated | 23340516[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.59 / 100 000 | Puerto rico | Value and class | Validated | DOI:10.3233/JND-160147[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8.2 / 100 000 | Ireland | Value and class | Validated | 8845721[PMID]_24780148[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.7 / 100 000 | Italy | Value and class | Validated | 10466417[PMID]_24780148[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.26 / 100 000 | Ireland | Value and class | Validated | 8845721[PMID]_24780148[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.8 / 100 000 | Worldwide | Value and class | Validated | 32503598[PMID] |
| Lifetime Prevalence | 1-9 / 100 000 | 7.66 / 100 000 | Egypt | Value and class | Validated | 16210862[PMID]_24780148[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.56 / 100 000 | Japan | Value and class | Validated | 1745328[PMID]_24780148[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.47 / 100 000 | South Africa | Value and class | Validated | 7825085[PMID]_24780148[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2.75 / 100 000 | Denmark | Value and class | Validated | 14678803[PMID]_24780148[PMID]_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
15 annotations · validated 2017-07-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0001638 | Cardiomyopathy | |
| HP:0100543 | Cognitive impairment | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001371 | Flexion contracture | |
| HP:0001263 | Global developmental delay | |
| HP:0001270 | Motor delay | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001328 | Specific learning disability | |
| HP:0002515 | Waddling gait | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 27524897[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98896
- This record as JSON: /data/d/98896.json