Early-onset myopathy with fatal cardiomyopathy
Synonyms: EOMFC · Salih myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset myopathy with fatal cardiomyopathy | EOMFC · Salih myopathy |
| fr | Myopathie précoce avec cardiomyopathie létale | EOMFC · Myopathie de Salih |
| de | Myopathie mit fataler Kardiomyopathie, früh-beginnende Form | EOMFC · Myopathie Typ Salih |
| es | Miopatía de inicio precoz con miocardiopatía letal | EOMFC · Miopatía de Salih |
| it | Miopatia ad esordio precoce con cardiomiopatia letale | |
| nl | Vroeg aanvangende myopathie met fatale cardiomyopathie | EOMFC · Myopathie van Salih |
| pt | Miopatia de início precoce com miocardiopatia fatal | |
| pl | Miopatia o wczesnym początku ze śmiertelną kardiomiopatią | = en |
| cs | Myopatie s časným nástupem a fatální kardiomyopatií | = en |
| uk | Рання міопатія з фатальною кардіоміопатією | EOMFC · Міопатія Саліха |
| zh | 早发性肌病伴致死性心肌病 | Salih肌病 |
| tr | Fatal kardiyomiyopati ile seyreden erken-başlangıçlı miyopati | EOMFC · Salih miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611705 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C7Y | NTBT | attributed | validated |
| MONDO | 0012714 | E | validated | |
| MeSH | C567129 | E | validated | |
| UMLS | C2673677 | 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 (3):
- ORPHA:217610Neuromuscular disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209053Qualitative or quantitative defects of titin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTN | Disease-causing germline mutation(s) in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 17444505[PMID]_22238790[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/289377
- This record as JSON: /data/d/289377.json