X-linked Non Progressive Cerebellar Ataxia

Description

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

Clinical Features

Top most frequent phenotypes and symptoms related to X-linked Non Progressive Cerebellar Ataxia

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus
  • Motor delay
  • Dysarthria
  • Babinski sign
  • Cerebellar hypoplasia
  • Neonatal hypotonia

And another 11 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

X-linked Non Progressive Cerebellar Ataxia Is also known as scax5, x-linked spinocerebellar ataxia type 5.

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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X-linked Non Progressive Cerebellar Ataxia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Spinocerebellar ataxia type 1, X-linked.

By Centogene AG - the Rare Disease Company (Germany).

ATP2B3
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH (Germany).

SACS, SLC9A1, SPG7, SPTBN2, STUB1, TTPA, WWOX, ATP8A2, CA8, SNX14, APTX, COQ8A, PRICKLE1, SYNE1, PMPCA, TDP1, TPP1, RNF216, CP, SYT14 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Spinocerebellar ataxia, X-linked 1: ATP2B3 gene sequence analysis.

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

ATP2B3
Specificity
100 %
Genes
100 %
ATP2B3.

By Fulgent Genetics Fulgent Genetics (United States).

ATP2B3
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5 , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %

We have 4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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