Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome | |
| fr | Syndrome de contracture progressive de l'enfance-faiblesse musculaire des ceintures-dystrophie musculaire | |
| de | Im Kindesalter beginnende progressive Kontrakturen mit Gliedergürtelmuskelschwäche und Muskeldystrophie | |
| es | Síndrome de contracturas progresivas-debilidad de cinturas-distrofia muscular de inicio en la infancia | |
| it | Sindrome contratture progressive ad esordio infantile-debolezza dei cingoli-distrofia muscolare | |
| nl | Progressieve contracturen met aanvang in de kindertijd - limb-girdle-zwakte - spierdystrofie-syndroom | |
| pt | Síndrome de contraturas progressivas com início na infância-fraqueza das cinturas dos membros-distrofia muscular | |
| pl | Zespół postępujących przykurczów, słabości obręczowo-kończynowej i dystrofii mieśniowej | |
| cs | Syndrom progresivních kontraktur s nástupem v dětském věku, slabosti pletencových svalů a svalové dystrofie | |
| uk | Синдром прогресуючих контрактур-слабкості мязового поясу-мязової дистрофії, що починається у дитинстві | |
| zh | 儿童期起病的进行性挛缩-四肢束带无力-肌肉营养不良综合征 | |
| tr | Çocukluk çağında başlayan ilerleyici kontraktürler-ekstremite kavşak tip kas distrofisi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0018759 | E | validated | |
| UMLS | C5568863 | 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:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 26581302[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 26581302[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26581302[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/466921
- This record as JSON: /data/d/466921.json