Congenital muscular dystrophy
Synonyms: CMD · MDC
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare clinically and genetically heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness, delayed motor milestones and joint contractures. Feeding difficulty, orthopedic and respiratory complications, that may be life-threatening, often develop in the course of the disease. Intellectual disability, structural brain abnormalities, ocular abnormalities (such as optic atrophy, retinal changes), seizures and cardiomyopathy are also reported to be associated with different disorders belonging to this group. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy | CMD · MDC |
| fr | Dystrophie musculaire congénitale | CMD · DMC · MDC |
| de | Muskeldystrophie, kongenitale | = en |
| es | Distrofia muscular congénita | = en |
| it | Distrofia muscolare congenita | = en |
| nl | Congenitale spierdystrofie | = en |
| pt | Distrofia muscular, congénita | |
| pl | Wrodzona dystrofia mięśniowa | = en |
| cs | Vrozené svalové dystrofie | = en |
| uk | Вроджена мязова дистрофія | = en |
| zh | 先天性肌营养不良 | = en |
| tr | Doğumsal kas distrofisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C70.6 | E | specific | validated |
| MONDO | 0019950 | E | validated | |
| UMLS | C0699743 | E | validated | |
| GARD | 9138 | 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:98473Muscular dystrophy
rare genetic diseases; rare neurological diseases
Children (15):
- ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita
- ORPHA:646098Collagen VI-related congenital muscular dystrophy
- ORPHA:157973Congenital muscular dystrophy due to LMNA mutation
- ORPHA:370953Congenital muscular dystrophy due to dystroglycanopathy
- ORPHA:98893Congenital muscular dystrophy type 1B
- ORPHA:371007Congenital muscular dystrophy with hyperlaxity
- ORPHA:34520Congenital muscular dystrophy with integrin alpha-7 deficiency
- ORPHA:662184Congenital muscular dystrophy-cataract-intellectual disability syndrome
- ORPHA:1875Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:199329Congenital myopathy, Paradas type
- ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy
- ORPHA:280671Megaconial congenital muscular dystrophy
- ORPHA:536516Myopathic Ehlers-Danlos syndrome
- ORPHA:97244Rigid spine syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:98468OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly referred to · inactive
- ORPHA:98469OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly referred to · inactive
- ORPHA:98470OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.563 / 100 000 | Italy | Value and class | Validated | 25653289[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/97242
- This record as JSON: /data/d/97242.json