Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | |
| fr | Myopathie autosomique récessive avec ophtalmoplégie externe de l'enfant | |
| de | Im Kindesalter beginnende autosomal-rezessive Myopathie mit externer Ophtalmoplegie | |
| es | Miopatía autosómica recesiva de inicio en la infancia con oftalmoplejía externa | |
| it | Miopatia autosomica recessiva ad esordio infantile con oftalmoplegia esterna | |
| nl | Autosomaal recessieve myopathie met externe oftalmoplegie met aanvang tijdens de kindertijd | |
| pt | Miopatia com oftalmoplegia externa autossómica recessiva com início na infância | |
| pl | Autosomalna recesywna miopatia z oftalmoplegią zewnętrzną o początku w wieku dziecięcym | |
| cs | Autozomálně recesivní myopatie s externí oftalmoplegií s nástupem v dětství | |
| uk | Аутосомно-рецесивна міопатія із зовнішньою офтальмоплегією, що починається в дитячому віці | |
| zh | 儿童起病常染色体隐性肌病伴外眼肌麻痹 | |
| tr | Eksternal oftalmopleji ile seyreden çocuklukta başlayan otozomal resesif miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605637 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0018206 | E | validated | |
| UMLS | C5192594 | 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:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7572 | ENSG00000125414 | 160740 | 17p13.1 | myosin heavy chain 2 | 23388406[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 15548556[PMID]_23388406[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/363677
- This record as JSON: /data/d/363677.json