Autosomal Recessive Spastic Ataxia With Leukoencephalopathy

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Ataxia With Leukoencephalopathy

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy

And another 15 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

Autosomal Recessive Spastic Ataxia With Leukoencephalopathy Is also known as autosomal recessive spastic ataxia with leukoencephalopathy, spax3, autosomal recessive spastic ataxia type 3, arsal.

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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Autosomal Recessive Spastic Ataxia With Leukoencephalopathy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
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 %
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 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Ataxia.

By MGZ Medical Genetics Center (Germany).

SPG7, APTX, COQ8A, TACO1, MARS2, MTPAP, C12orf65, AFG3L2, ABCB7, POLG
Specificity
10 %
Genes
100 %
Combined Respiratory Chain Defects.

By MGZ Medical Genetics Center (Germany).

SUCLA2, SUCLG1, TK2, TSFM, TUFM, GFM1, MRPS16, MRPS22, PUS1, LRPPRC, RRM2B, SARS2, MTO1, AARS2, FARS2, RMND1, RARS2, YARS2, TACO1, MARS2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center (Germany).

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SGCE, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC6A8, SPG7, SPTAN1, CDKL5 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
100 %

We have 18 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 JAWAD SYNDROME; JWDS CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2 UROFACIAL SYNDROME 1; UFS1

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