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.

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.

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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.


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Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

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 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

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 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

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 %
Mental retardation - different panels.

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 %
Brain Malformations / Neuronal Migration Disorders.

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 %
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), Aspartyl-tRNA synthetase deficiency (DARS).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

DARS
Specificity
100 %
Genes
100 %
Hypomyelination with brainstem and spinal cord involvement and leg spasticity.

By Centogene AG - the Rare Disease Company (Germany).

DARS
Specificity
100 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

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 %

We have 5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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