Congenital muscular dystrophy with hyperlaxity
Synonyms: CMDH
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy with hyperlaxity | CMDH |
| fr | Dystrophie musculaire congénitale avec hyperlaxité | CMDH · DMCH |
| de | Kongenitale Muskeldystrophie mit Gelenkinstabilität | = en |
| es | Distrofia muscular congénita con hiperlaxitud | = en |
| it | Distrofia muscolare congenita con iperlassità | = en |
| nl | Congenitale spierdystrofie met hyperlaxiteit | = en |
| pt | Distrofia muscular congénita com hipermobilidade | |
| pl | Wrodzona dystrofia mięśniowa z nadmierną wiotkością | = en |
| cs | Vrozená svalová dystrofie s hyperlaxitou | = en |
| uk | Вроджена мязова дистрофія з гіперрозтягнутістю | = en |
| zh | 先天性肌营养不良伴过度松弛 | = en |
| tr | Hiperlaksite ile seyreden doğumsal kas distrofisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0018281 | E | validated | |
| UMLS | C4706389 | 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 | 14 cases | Worldwide | Case(s) | Validated | 16760198[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16760198[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/371007
- This record as JSON: /data/d/371007.json