Congenital muscular dystrophy type 1B
Synonyms: CMD1B · MDC1B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy type 1B | CMD1B · MDC1B |
| fr | Dystrophie musculaire congénitale type 1B | CMD1B · DMC1B · MDC1B |
| de | Muskeldystrophie, kongenitale, Typ 1B | = en |
| es | Distrofia muscular congénita tipo 1B | = en |
| it | Distrofia muscolare congenita, tipo 1B | = en |
| nl | Congenitale spierdystrofie type 1B | = en |
| pt | Distrofia muscular congénita, tipo 1b | |
| pl | Wrodzona dystrofia mięśniowa typu 1B | = en |
| cs | Vrozená svalová dystrofie, typ 1B | = en |
| uk | Вроджена мязова дистрофія, тип 1В | = en |
| zh | 先天性肌营养不良症IB型 | = en |
| tr | Doğumsal kas distrofisi tip 1B | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604801 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0011486 | E | validated | |
| MeSH | C565748 | E | validated | |
| UMLS | C1858118 | 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 (1):
- ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 10677302[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10677302[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/98893
- This record as JSON: /data/d/98893.json