Spinocerebellar Ataxia 6; Sca6

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 6; Sca6

  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Blindness
  • Cerebellar atrophy
  • Rod-cone dystrophy

And another 30 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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.


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Spinocerebellar Ataxia 6; Sca6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA6 (CACNA1A) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

CACNA1A
Specificity
100 %
Genes
100 %
Ataxia, Common Repeat Expansion Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3
Specificity
13 %
Genes
100 %
Episodic Ataxia Evaluation.

By Athena Diagnostics Inc (United States).

SLC1A3, CACNA1A, CACNB4, KCNA1
Specificity
25 %
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 %
Ataxia, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc (United States).

SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG
Specificity
7 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hemiplegic Migraine Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, CACNA1A, ATP1A2
Specificity
34 %
Genes
100 %
CACNA1A Sequencing Test.

By Athena Diagnostics Inc (United States).

CACNA1A
Specificity
100 %
Genes
100 %

We have 156 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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