Spinocerebellar Ataxia Type 40

Description

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 40

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait ataxia
  • Neurological speech impairment
  • Dysmetria
  • Unsteady gait
  • Intention tremor
  • Broad-based gait

And another 7 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.

Alternative names

Spinocerebellar Ataxia Type 40 Is also known as sca40.

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 Type 40 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Hydrocephalus Panel.

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

CCDC88C, L1CAM, MPDZ
Specificity
34 %
Genes
100 %
Autosomal recessive non-syndromic hydrocehalus panel.

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

CCDC88C, MPDZ
Specificity
50 %
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 %
Hydrocephalus, nonsyndromic, type 1 AR (sequence analysis of CCDC88C gene).

By CGC Genetics (Portugal).

CCDC88C
Specificity
100 %
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 %
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ZIC3, HDAC6, CCND2, CRB2, CCDC88C, FLVCR2, WDR81, DNAI1, EML1, AKT3, AP1S2, L1CAM, MPDZ, P4HB, PIK3R2, POMT1, PTEN
Specificity
6 %
Genes
100 %
Hydrocephalus, Congenital, 1 via CCDC88C Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CCDC88C
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %

We have 14 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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