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.
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
Search interest in ATXN8
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 Portugal.
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 Portugal.
Spinocerebellar Ataxia Type 8 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ATXN8 gene.
More info about this panel Germany.
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 United States.
Spinocerebellar ataxia 8 Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ATXN8 gene.
More info about this panel Germany.
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 Spain.
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 Brazil.
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 Spain.
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