West syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Intellectual deficit - hypsarrhythmia Infantile spasms |
| Number of Symptoms | 7 |
| OrphanetNr: | 3451 |
| OMIM Id: |
308350
615006 |
| ICD-10: |
G40.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
28055006 |
Prevalence, inheritance and age of onset:
| Prevalence: | 3.7 of 100 000 |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
ARX-related epileptic encephalopathy
-Rare genetic disease -Rare neurologic disease Infantile epilepsy syndrome -Rare genetic disease -Rare neurologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Comment:
| West syndrome is classified according to the underlying etiology into (1) an acquired West syndrome, (2) a congenital/developmental West syndrome, and (3) West syndrome of unknown etiology (PMID:25878738). Five Leigh Syndrome (LS) children with West Syndrome (WS) are compared with seven LS children without WS (in PMID: 12767455). In all five patients, infantile spasms developed after LS had become evident, in addition to other type(s) of seizures. The onset of LS in all the patients with WS was before 10 months of age. Although not statistically proven, early onset of LS, spasticity, nystagmus, apnea, poor feeding, and cardiac problems seemed to be associated with the development of WS (PMID:12767455). The main symptoms for the West syndrome are given. Depending on the reasons for WS a broad variety of additional symptoms are possible. |
Symptom Information:
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(HPO:0200134) | Epileptic encephalopathy | 25891921 | IBIS | 42 / 7739 | ||
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(HPO:0001250) | Seizures | 12767455 | IBIS | 1245 / 7739 | ||
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(HPO:0012469) | Infantile spasms | 12767455 | IBIS | 18 / 7739 | ||
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(HPO:0002521) | Hypsarrhythmia | 25891921 | IBIS | 43 / 7739 | ||
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(HPO:0011097) | Epileptic spasms | 12767455 | IBIS | 45 / 7739 | ||
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(HPO:0001263) | Global developmental delay | 25891921 | IBIS | 853 / 7739 | ||
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(MedDRA:10019299) | Heart rate | 25891921 | IBIS | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. this syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (eeg) testing. the ... |
| Summary (Orphanr) |
West Syndrome, also known as epileptic encephalopathy, early infantile, 1, is related to aicardi syndrome and ohtahara syndrome, and has symptoms including seizures, hypertonia and hemiplegia/hemiparesis. An important gene associated with West Syndrome is ARX (aristaless related homeobox), and ... |
| Clinical Description OMIM |
Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by Ohtahara et al. (1976). It is characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by ... |
| Genotype-Phenotype Correlations OMIM |
Genotype/Phenotype Correlations Fullston et al. (2010) identified a truncating mutation in the ARX gene (Y27X; 300382.0023) in 2 male first cousins with EIEE1. Although the patients had a severe form of the disorder with early-onset refractory seizures and ... |