ORPHA:270
Oculopharyngeal muscular dystrophy
Synonyms: OPMD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult, Elderly
- Status
- active
A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculopharyngeal muscular dystrophy | OPMD |
| fr | Dystrophie musculaire oculo-pharyngée | DMOP · OPMD |
| de | Muskeldystrophie, okulopharyngeale | = en |
| es | Distrofia muscular oculofaríngea | DMOF |
| it | Distrofia muscolare oculofaringea | = en |
| nl | Oculofaryngeale spierdystrofie | = en |
| pt | Distrofia muscular óculo-faríngea | |
| pl | Dystrofia oczno-gardłowa | = en |
| cs | Okulofaryngeální svalová dystrofie | = en |
| uk | Окулофарингеальна мязова дистрофія | = en |
| zh | 眼咽肌营养不良 | = en |
| tr | Okülofaringeal kas distrofisi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164300 | E | validated | |
| ICD-10 | G71.0 | NTBT | inclusion | validated |
| ICD-11 | 9C82.1 | NTBT | index | validated |
| MONDO | 0008116 | E | validated | |
| MeSH | D039141 | E | validated | |
| UMLS | C0270952 | E | validated | |
| GARD | 7245 | E | validated | |
| MedDRA | 10052181 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PABPN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8565 | ENSG00000100836 | 602279 | 14q11.2 | poly(A) binding protein nuclear 1 | 20301305[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 167 / 100 000 | Specific population | Value and class | Validated | 9392014[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | France | Value and class | Validated | 9392013[PMID]_2204987[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | >1 / 1000 | 100 / 100 000 | Specific population | Value and class | Validated | 7795598[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.
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HPO phenotypes
26 annotations · validated 2024-06-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0002015 | Dysphagia | |
| HP:0012378 | Fatigue | |
| HP:0003198 | Myopathy | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000508 | Ptosis | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0003302 | Spondylolisthesis | |
| Frequent (79-30%) | ||
| HP:0034045 | Angulated muscle fibers | |
| HP:0003327 | Axial muscle weakness | |
| HP:0001618 | Dysphonia | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0011968 | Feeding difficulties | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0100304 | Muscle fiber intranuclear inclusion bodies | |
| HP:0012531 | Pain | |
| HP:0032342 | Reduced forced expiratory volume in one second | |
| HP:0012473 | Tongue atrophy | |
| HP:0000183 | Tongue muscle weakness | |
| HP:0030319 | Weakness of facial musculature | |
| HP:6001011 | Wet voice | |
| Occasional (29-5%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0000298 | Mask-like facies | |
| Very rare (<4-1%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0010535 | Sleep apnea | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 20301305[PMID]_25842253[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/270
- This record as JSON: /data/d/270.json