Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Synonyms: EMARDD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | EMARDD |
| fr | Syndrome de myopathie à début précoce-aréflexie-détresse respiratoire-dysphagie | = en |
| de | Früh-beginnende Myopathie-Areflexie-Atemnot-Dysphagie-Syndrom | = en |
| es | Síndrome de miopatía de inicio precoz-arreflexia-dificultad respiratoria-disfagia | = en |
| it | Sindrome miopatia a esordio precoce-areflessia-distress respiratorio-disfagia | = en |
| nl | Vroeg beginnende myopathie - areflexie - ademhalingsnood - dysfagie-syndroom | = en |
| pt | Síndrome de miopatia-arreflexia-dificuldade respiratória-disfagia de início precoce | |
| pl | Zespół miopatii, arefleksji, zaburzeń oddychania i dysfagii o wczesnym początku | = en |
| cs | Syndrom zahrnující myopatii s časným nástupem, areflexii, respirační obtíže a dysfagii | = en |
| uk | Синдром міопатії-рефлексії-респіраторного дистресу-дисфагії з раннім початком | = en |
| zh | 早发性肌病-反射消失-呼吸窘迫-吞咽困难综合征 | = en |
| tr | Erken başlangıçlı miyopati-arefleksi-solunum sıkıntısı-disfaji sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614399 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0013731 | E | validated | |
| UMLS | C3280679 | E | validated | |
| GARD | 12199 | 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 |
|---|---|---|---|---|---|---|---|---|
| MEGF10 | Disease-causing germline mutation(s) in | Assessed | HGNC:29634 | ENSG00000145794 | 612453 | 5q23.2 | multiple EGF like domains 10 | 22101682[PMID]_23453856[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 29128256[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29128256[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/439212
- This record as JSON: /data/d/439212.json