Autosomal Recessive Spastic Ataxia-optic Atrophy-dysarthria Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Ataxia-optic Atrophy-dysarthria Syndrome

  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy
  • Hyporeflexia
  • Babinski sign
  • Myoclonus

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.)
— The onset for some of the known clinical features related to this disease may vary, including late onset .

Alternative names

Autosomal Recessive Spastic Ataxia-optic Atrophy-dysarthria Syndrome Is also known as spax4, autosomal recessive spastic ataxia type 4.

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.

Autosomal Recessive Spastic Ataxia-optic Atrophy-dysarthria Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, FXN, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
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 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics (Portugal).

SACS, SLC1A3, SPTBN2, TTPA, VAMP1, VLDLR, CACNA1A, CACNB4, ELOVL4, ABHD12, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, CCDC88C, ELOVL5, SYT14, PLEKHG4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Spastic Ataxia with Optic Atrophy (SPAX4) via MTPAP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MTPAP
Specificity
100 %
Genes
100 %

You can get up to 26 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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