Spinocerebellar Ataxia 8; Sca8

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 8; Sca8

  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dysphagia
  • Cerebellar atrophy
  • Dystonia

And another 25 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Spinocerebellar Ataxia 8; Sca8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spinocerebellar ataxia 8 (SCA8, CTG/CAG expansion on ATXN80S/ATXN8 gene).

By CGC Genetics (Portugal).

ATXN8
Specificity
100 %
Genes
50 %
Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP).

By CGC Genetics (Portugal).

ATXN10, ATXN8OS, TBP, ATXN8, PPP2R2B
Specificity
40 %
Genes
100 %
Spinocerebellar Ataxia Type 8.

By MGZ Medical Genetics Center (Germany).

ATXN8
Specificity
100 %
Genes
50 %
Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA).

By MNG Laboratories (Medical Neurogenetics, LLC.) (United States).

ATXN1, ATXN10, ATXN2, ATXN7, TBP, CACNA1A, NOP56, ATN1, ATXN8, ATXN3, PPP2R2B
Specificity
10 %
Genes
50 %
Spinocerebellar ataxia 8.

By MVZ Dortmund Dr. Eberhard & Partner (Germany).

ATXN8
Specificity
100 %
Genes
50 %
Spinocerebellar ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, SLC1A3, SPTBN2, TBP, TTPA, VLDLR, CACNA1A, NOP56, APTX, TGM6, COQ8A, SYNE1, PDSS1, TTBK2, PDSS2, COQ2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. (Brazil).

RPL10, ATXN1, ATXN2, ATXN8OS, SEMA3E, GEMIN2, BRAF, BRCA1, BRCA2, SOX9, CDKL5, TBP, TGFB1, TP53, TSC1, TTR, UBE3A, SHANK2, SMNDC1, CDH1 , (...)

View the complete list with 44 more genes
Specificity
4 %
Genes
100 %
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes.

By Reference Laboratory Genetics (Spain).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, SPTBN2, TBP, TTPA, VLDLR, CACNA1A, NOP56, APTX, TGM6, COQ8A, SYNE1, PDSS1, TTBK2, PDSS2, COQ2, COQ9 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %

We have 18 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THYROID DYSHORMONOGENESIS 4; TDH4

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more