Spinocerebellar Ataxia Type 41

Description

Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.

Clinical Features

Phenotypes and symptoms related to Spinocerebellar Ataxia Type 41

  • Ataxia
  • Cerebellar atrophy
  • Gait ataxia
  • Unsteady gait
  • Postural instability
  • Cerebellar vermis atrophy

Incidence and onset information

— Based on the latest data available there are 1 published cases of SPINOCEREBELLAR ATAXIA TYPE 41 in Europe.
No data available about the known clinical features onset.

Alternative names

Spinocerebellar Ataxia Type 41 Is also known as sca41.

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 41 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 %
TRPC3.

By Fulgent Genetics Fulgent Genetics (United States).

TRPC3
Specificity
100 %
Genes
100 %

We have -6 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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