PRDM8-related progressive myoclonus epilepsy
Synonyms: Early-onset Lafora body disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PRDM8-related progressive myoclonus epilepsy | Early-onset Lafora body disease |
| fr | Epilepsie myoclonique progressive associée à PRDM8 | Maladie à corps de Lafora à début précoce |
| de | PRDM8-assoziierte progressive Myoklonus-Epilepsie | Früh beginnende Lafora-Einschlusskörperchen-Krankheit |
| es | Epilepsia mioclónica progresiva asociada a PRDM8 | Enfermedad de cuerpos de Lafora de inicio precoz |
| it | Malattia da corpi di Lafora ad esordio precoce | |
| nl | PRDM8-gerelateerde progressieve myoclonusepilepsie | Vroeg optredende ziekte met Lafora-lichaampjes |
| pt | Epilepsia mioclónica progressiva PRDM8-relacionada | Doença dos corpos de Lafora de início precoce |
| pl | Choroba ciałek Lafora o wczesnym początku | = en |
| cs | Laforova choroba s časným nástupem | = en |
| uk | Хвороба Лафора з раннім початком | |
| zh | 早发性拉福拉体病 | |
| tr | Erken başlangıçlı Lafora vücut hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616640 | E | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.41 | NTBT | attributed | validated |
| MONDO | 0014717 | E | validated | |
| UMLS | C4518574 | 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:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRDM8 | Disease-causing germline mutation(s) in | Assessed | HGNC:13993 | ENSG00000152784 | 616639 | 4q21.21 | PR/SET domain 8 | 22961547[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22961547[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22961547[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
12 annotations · validated 2017-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100318 | Lafora bodies | |
| HP:0001336 | Myoclonus | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0001260 | Dysarthria | |
| HP:0001347 | Hyperreflexia | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001289 | Confusion | |
| HP:0001268 | Mental deterioration | |
| HP:0002300 | Mutism | |
| HP:0001250 | Seizure | |
| HP:0001285 | Spastic tetraparesis | |
| Very rare (<4-1%) | ||
| HP:0011999 | Paranoia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22961547[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324290
- This record as JSON: /data/d/324290.json