Progressive myoclonic epilepsy with dystonia
Synonyms: PMED · Progressive myoclonus epilepsy with dystonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy with dystonia | PMED · Progressive myoclonus epilepsy with dystonia |
| fr | Epilepsie myoclonique progressive avec dystonie | PMED |
| de | Myoklonusepilepsie, progressive, mit Dystonie | PMED |
| es | Epilepsia mioclónica progresiva con distonía | PMED |
| it | Epilessia mioclonica progressiva con distonia | PMED |
| nl | Progressieve myoclonische epilepsie met dystonie | PMED · Progressieve myoclonusepilepsie met dystonie |
| pt | Epilepsia mioclónica progressiva com distonia | |
| pl | Postępująca padaczka miokloniczna z dystonią | PMED |
| cs | Progresivní myoklonická epilepsie s dystonií | PMED |
| uk | Прогресуюча міоклонічна епілепсія з дистонією | PMED · Прогресуюча міоклонусна епілепсія з дистонією |
| zh | 进行性肌阵挛性癫痫伴肌张力障碍 | 进行性肌阵挛癫痫伴肌张力障碍 |
| tr | Distoni ile seyreden ilerleyici miyoklonik epilepsi | PMED · Distoni ile seyreden ilerleyici miyoklonus epilepsisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615338 | NTBT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| MONDO | 0018126 | E | validated | |
| UMLS | C4706413 | 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:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBC1D24 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29203 | ENSG00000162065 | 613577 | 16p13.3 | TBC1 domain family member 24 | 21087195[PMID]_23343562[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 21087195[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
22 annotations · validated 2018-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001332 | Dystonia | |
| HP:0001336 | Myoclonus | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| Frequent (79-30%) | ||
| HP:0002188 | Delayed CNS myelination | |
| HP:0002376 | Developmental regression | |
| HP:0001326 | EEG with irregular generalized spike and wave complexes | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0011968 | Feeding difficulties | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0002133 | Status epilepticus | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0001263 | Global developmental delay | |
| HP:0001269 | Hemiparesis | |
| HP:0002301 | Hemiplegia | |
| HP:0025152 | Poor visual behavior for age | |
| Very rare (<4-1%) | ||
| HP:0000648 | Optic atrophy | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 21087195[PMID]_23526554[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352596
- This record as JSON: /data/d/352596.json