Alexander Disease; Alxdrd
Description
In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.
Clinical Features
Top most frequent phenotypes and symptoms related to Alexander Disease; Alxdrd
- Intellectual disability
- Seizures
- Global developmental delay
- Scoliosis
- Ataxia
- Growth delay
- Nystagmus
- Failure to thrive
- Muscle weakness
- Muscular hypotonia
And another 83 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Alexander Disease; Alxdrd Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.
By Athena Diagnostics Inc (United States).
SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.
By Athena Diagnostics Inc (United States).
SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5 , (...)
View the complete list with 36 more genes
Specificity
2 %
Genes
100 % |
GFAP (Alexander Disease) Sequencing Test.
By Athena Diagnostics Inc (United States).
GFAP
Specificity
100 %
Genes
100 % |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
Alexander disease.
By Human Genetics University Hospital Bern (Switzerland).
GFAP
Specificity
100 %
Genes
100 % |
GFAP Gene Sequencing.
By GeneDx (United States).
GFAP
Specificity
100 %
Genes
100 % |
Alexander Disease.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).
GFAP
Specificity
100 %
Genes
100 % |
You can get up to 51 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED; CBAVDX PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH GERODERMA OSTEODYSPLASTICUM; GO