Progressive myoclonic epilepsy with dystonia

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE16
PMED
Number of Symptoms 26
OrphanetNr: 352596
OMIM Id: 615338
ICD-10: G40.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Infantile epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease
Monogenic disease with epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0005484) Postnatal microcephaly 32 / 7739
3
 (HPO:0000572) Visual loss 272 / 7739
4
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
5
 (HPO:0002376) Developmental regression 74 / 7739
6
 (HPO:0001332) Dystonia 197 / 7739
7
 (HPO:0001269) Hemiparesis 51 / 7739
8
 (HPO:0002133) Status epilepticus 59 / 7739
9
 (HPO:0001336) Myoclonus 115 / 7739
10
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
11
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
14
 (HPO:0001324) Muscle weakness 859 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
17
 (HPO:0010547) Muscle flaccidity 466 / 7739
18
 (HPO:0003676) Progressive disorder 148 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (HPO:0012448) Delayed myelination 51 / 7739
21
 (OMIM) Multifocal spikes and progressive slowing of background activity seen on EEG 1 / 7739
22
 (OMIM) Migrating clonic jerks (in some patients) 1 / 7739
23
 (OMIM) Progressive cerebral atrophy seen on MRI 1 / 7739
24
 (OMIM) Seizures, tonic, clonic, focal 1 / 7739
25
 (OMIM) Prolonged seizures 1 / 7739
26
 (OMIM) Loss of eye contact 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Early infantile epileptic encephalopathy-16 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods ...
Clinical Description OMIM Duru et al. (2010) reported a large consanguineous Turkish family in which 5 children had a severe early infantile epileptic encephalopathy characterized by myoclonic seizures, alternating and migrating jerks of the extremities, focal seizures, and neurologic deterioration with ...
Molecular genetics OMIM In affected members of the family reported by Duru et al. (2010), Guven and Tolun (2013) identified a homozygous truncating mutation in the TBC1D24 gene (613577.0004). The severity of the mutation paralleled the severity of the phenotype. ...