Spinocerebellar Ataxia Type 41
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.
Genes related to Spinocerebellar Ataxia Type 41
Clinical FeaturesPhenotypes and symptoms related to Spinocerebellar Ataxia Type 41
- 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.
Spinocerebellar Ataxia Type 41 Is also known as sca41.
Researches and researchersCurrently, 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.
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
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.ORPHANET OMIM Genetic Syndrome Finder
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2