Spinocerebellar Ataxia 10; Sca10

Description

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 10; Sca10

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dysphagia
  • Cerebellar atrophy
  • Depressivity

And another 23 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 10; Sca10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA10 (ATXN10) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

ATXN10
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 %
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, 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 %
Spinocerebellar ataxia 10.

By Center for Human Genetics, Inc (United States).

ATXN10
Specificity
100 %
Genes
100 %
Ataxia Repeat Expansion Panel.

By Genetic Services Laboratory University of Chicago (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATN1, FXN, ATXN3, PPP2R2B
Specificity
10 %
Genes
100 %
Ataxin 10 (ATXN10) gene ATTCT repeat test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics (Cyprus).

ATXN10
Specificity
100 %
Genes
100 %
ATXN10. ATTCT expansion detection by PCR.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ATXN10
Specificity
100 %
Genes
100 %

We have 21 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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 STURGE-WEBER SYNDROME; SWS BONE MARROW FAILURE SYNDROME 1; BMFS1

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