Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity
Description
Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.
Genes related to Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity
- DARS
Clinical Features
Top most frequent phenotypes and symptoms related to Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity
- Intellectual disability
- Generalized hypotonia
- Nystagmus
- Spasticity
- Motor delay
- Hyperreflexia
- Hypoplasia of the corpus callosum
- Intellectual disability, mild
- Babinski sign
- Muscular hypotonia of the trunk
And another 5 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.
Alternative names
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Is also known as hbsl, aspartyl-trna synthetase deficiency.
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.Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By PreventionGenetics PreventionGenetics (United States).
SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2 , (...)
View the complete list with 50 more genes
Specificity
2 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
RTN2, SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, ERLIN1, NIPA1, RAB3GAP2 , (...)
View the complete list with 60 more genes
Specificity
2 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)
View the complete list with 135 more genes
Specificity
1 %
Genes
100 % |
![]() By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Specificity
1 %
Genes
100 % |
![]() By MGZ Medical Genetics Center (Germany).
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, SGCE, SGSH, STIL, SLC16A2, SLC2A1, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMS , (...)
View the complete list with 245 more genes
Specificity
1 %
Genes
100 % |
![]() By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).
DARS
Specificity
100 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
DARS
Specificity
100 %
Genes
100 % |
![]() By CeGaT GmbH (Germany).
BCS1L, SCO2, SCP2, AIMP1, SDHA, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SOX10, SPG11, STX11, STXBP2, SUCLA2, SURF1, ACOX1, TREX1, TUFM, TYROBP, MCOLN1 , (...)
View the complete list with 155 more genes
Specificity
1 %
Genes
100 % |
You can get up to 5 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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