Epilepsy with eyelid myoclonia
Synonyms: EMA · EMEA · Eyelid myoclonia with and without absences · Jeavons syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Unknown
- Age of onset
- Childhood
- Status
- active
A rare, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. It is currently classified among genetic generalized epilepsy (GGEs) syndromes and kept distinct from idiopathic generalized epilepsies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epilepsy with eyelid myoclonia | EMA · EMEA · Eyelid myoclonia with and without absences · Jeavons syndrome |
| fr | Epilepsie avec myoclonie des paupières | EMA · EMEA · Myoclonie des paupières avec ou sans absence · Syndrome de Jeavons |
| de | Epilepsie mit Augenlidmyoklonie | Augenlid-Myoklonie mit und ohne Absencen · EMEA · Jeavons-Syndrom |
| es | Epilepsia con mioclonías palpebrales | EMEA · Mioclonía palpebral con o sin ausencias · Síndrome de Jeavons |
| it | Epilessia con mioclonia delle palpebre | EMA · EMEA · Mioclonia delle palpebre con e senza assenze · Mioclonia palpebrale con e senza assenze · Sindrome di Jeavons |
| nl | Epilepsie met myoclonie van ooglid | EMA · EMEA · Epilepsie met myoclonus van ooglid · Myoclonie van ooglid met en zonder absences · Syndroom van Jeavons |
| pt | Epilepsia com mioclonia da pálpebra | EMEA · Mioclonia da pálpebra com ou sem ausências · Síndrome Jeavons · EMA |
| pl | Zespół Jeavonsa | EMEA · Miolklonia powieki z lub bez nieświadomości · Padaczka z mioklonią powiek |
| cs | Jeavonsův syndrom | EMEA · Myoklonie víček s abcencemi nebo bez absencí |
| uk | Епілепсія з міоклонією повік | EMA · EMEA · Міоклонія повік з абсансами та без них · Синдром Джевонса |
| zh | Jeavons综合征 | 眼睑肌阵挛伴或不伴缺如 |
| tr | Jeavons sendromu | EMEA · Absans nöbetle seyreden ve seyretmeyen göz kapağı miyoklonisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.2Y | NTBT | index | validated |
| MONDO | 0015346 | E | validated | |
| UMLS | C4274731 | E | validated | |
| GARD | 19916 | E | validated | |
| MedDRA | 10084303 | 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:98259Childhood-onset epilepsy syndrome
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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
23 annotations · validated 2021-11-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011168 | Eyelid myoclonias | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| Frequent (79-30%) | ||
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0011193 | EEG with focal spikes | |
| HP:0010858 | EEG with hyperventilation-induced epileptiform discharges | |
| HP:0010852 | EEG with photoparoxysmal response | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0100785 | Insomnia | |
| HP:0045084 | Limb myoclonus | |
| HP:0020216 | Visually-induced seizure | |
| Occasional (29-5%) | ||
| HP:0002457 | Abnormal head movements | |
| HP:0000739 | Anxiety | |
| HP:0010819 | Atonic seizure | |
| HP:0012001 | EEG with generalized polyspikes | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0001249 | Intellectual disability | |
| HP:0011182 | Interictal epileptiform activity | |
| HP:0007704 | Paroxysmal involuntary eye movements | |
| HP:0001328 | Specific learning disability | |
| Very rare (<4-1%) | ||
| HP:0031491 | Continuous spike and waves during slow sleep | |
| HP:0010818 | Generalized tonic seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32554361[PMID]_32369428[PMID]_30082241[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139431
- This record as JSON: /data/d/139431.json