ATXN8 gene related symptoms and diseases

All the information presented here about the ATXN8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATXN8 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Postural instability Very Common - Between 80% and 100% cases
Facial grimacing Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Cerebellar vermis atrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATXN8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Impotence
  • Aspiration
  • Bradykinesia
  • Urinary incontinence
  • Impaired smooth pursuit
  • Unsteady gait
  • Cerebellar atrophy
  • Rigidity

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ATXN8 gene

Here you will find a list of rare diseases related to the ATXN8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 8


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 8 Is also known as sca8

Description

Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 8

  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia
  • Dysphagia


More info about SPINOCEREBELLAR ATAXIA TYPE 8

SOURCES: ORPHANET

SPINOCEREBELLAR ATAXIA 8; SCA8


Most common symptoms of SPINOCEREBELLAR ATAXIA 8; SCA8

  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia


More info about SPINOCEREBELLAR ATAXIA 8; SCA8

SOURCES: OMIM


Potential gene panels for ATXN8 gene

Spinocerebellar ataxia 8 (SCA8, CTG/CAG expansion on ATXN80S/ATXN8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATXN8 gene.

More info about this panel

Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP) Panel

Portugal.

By CGC Genetics Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP) that also includes the following genes: ATXN10 ATXN8OS TBP ATXN8 PPP2R2B

More info about this panel

Spinocerebellar Ataxia Type 8 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ATXN8 gene.

More info about this panel

Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 TBP CACNA1A NOP56 ATN1 ATXN8 ATXN3

More info about this panel

Spinocerebellar ataxia 8 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ATXN8 gene.

More info about this panel

Spinocerebellar ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR

More info about this panel

Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

More info about this panel

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

Spain.

By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DYM TRAF2 LRAT

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more