Congenital myopathy with reduced type 2 muscle fibers
Synonyms: Congenital myopathy with fast-twitch fiber atrophy · Congenital myopathy with reduced type II muscle fibers · Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with type II fiber atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myopathy with reduced type 2 muscle fibers | Congenital myopathy with fast-twitch fiber atrophy · Congenital myopathy with reduced type II muscle fibers · Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with type II fiber atrophy |
| fr | Myopathie congénitale avec réduction des fibres musculaires de type 2 | Myopathie congénitale avec atrophie des fibres musculaires de type 2 · Myopathie congénitale avec atrophie des fibres musculaires de type II · Myopathie congénitale avec atrophie des fibres à contraction rapide · Myopathie congénitale avec réduction des fibres musculaires de type II |
| de | Kongenitale Myopathie mit reduzierten Typ 2-Muskelfasern | Myopathie, kongenitale, mit Typ II-Muskelfaseratrophie |
| es | Miopatía congénita con reducción de fibras musculares de tipo 2 | Miopatía congénita con atrofia de fibras de contracción rápida · Miopatía congénita con atrofia de fibras de tipo II · Miopatía congénita con atrofia de fibras musculares de tipo 2 · Miopatía congénita con reducción de fibras musculares de tipo II |
| it | Miopatia congenita con riduzione delle fibre muscolari di tipo 2 | |
| nl | Congenitale myopathie met vermindering van type 2 spiervezels | Congenitale myopathie met atrofie van snelle vezels · Congenitale myopathie met type 2-spiervezelatrofie · Congenitale myopathie met type II-vezelatrofie · Congenitale myopathie met vermindering van type II spiervezels |
| pt | miopatia congénita com redução de fibras musculares tipo 2 | |
| pl | Wrodzona miopatia ze zredukowanymi włóknami mięśniowymi typu 2 | = en |
| cs | Vrozená myopatie s redukovanými svalovými vlákny typu 2 | Vrozená myopatie s atrofií vláken typu II · Vrozená myopatie s atrofií svalových vláken typu 2 · Vrozená myopatie s redukovanými svalovými vlákny typu II · Vrozená myopatie s atrofií rychle se smršťujících/stahujících vláken |
| uk | Вроджена міопатія зі зменшеними мязовими волокнами, тип 2 | Вроджена міопатія з атрофією волокон, що швидко смикаються · Вроджена міопатія зі зменшеними мязовими волокнами ІІ типу · Вроджена міопатія з атрофією мязових волокон 2 типу · Вроджена міопатія з атрофією волокон II типу |
| zh | 先天性肌病伴2型肌纤维减少 | Congenital myopathy with reduced type II muscle fibers |
| tr | Azaltılmış tip 2 kas lifi ile seyreden doğumsal miyopati | Tip II fiber atrofisi ile seyreden doğumsal miyopati · Hızlı kasılan fiber atrofisi ile seyreden doğumsal miyopati · Tip 2 kas lifi atrofisi ile seyreden doğumsal miyopati · Azaltılmış tip II kas lifleri ile seyreden doğumsal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618414 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0034109 | E | validated | |
| UMLS | C5193081 | 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:97245Congenital myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYL1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7582 | ENSG00000168530 | 160780 | 2q34 | myosin light chain 1 | 30215711[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 30215711[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30215711[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/544602
- This record as JSON: /data/d/544602.json