Spinocerebellar Ataxia 2; Sca2
Description
Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 2; Sca2
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
- Muscular hypotonia
- Spasticity
- Cognitive impairment
- Flexion contracture
- Visual impairment
- Motor delay
And another 73 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Spinocerebellar Ataxia 2; Sca2 Is also known as wadia-swami syndrome, spinocerebellar ataxia, cuban type, olivopontocerebellar atrophy, holguin type, spinocerebellar degeneration with slow eye movements, olivopontocerebellar atrophy ii, spinocerebellar atrophy ii, cerebellar degeneration with slow eye moveme.
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.Spinocerebellar Ataxia 2; Sca2 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 SCA2 (ATXN2) Repeat Expansion Test.
By Athena Diagnostics Inc (United States).
ATXN2
Specificity
100 %
Genes
100 % |
|
Ataxia, Common Repeat Expansion Evaluation.
By Athena Diagnostics Inc (United States).
ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3
Specificity
13 %
Genes
100 % |
|
Ataxia, Comprehensive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
|
Ataxia, Complete Dominant Evaluation.
By Athena Diagnostics Inc (United States).
ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
|
Spinocerebellar ataxia 2.
By Center for Human Genetics, Inc (United States).
ATXN2
Specificity
100 %
Genes
100 % |
 Spinocerebellar ataxia type 2.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).
ATXN2
Specificity
100 %
Genes
100 % |
|
Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7).
By Center for Genetics at Saint Francis Saint Francis Hospital (United States).
ATXN1, ATXN2, ATXN7, CACNA1A, ATXN3
Specificity
20 %
Genes
100 % |
 Spinocerebellar ataxia type 2.
By Molecular Diagnostic Laboratory University of Alberta (Canada).
ATXN2
Specificity
100 %
Genes
100 % |
You can get up to 52 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH HOLT-ORAM SYNDROME AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5 CHROMOSOME 2p16.1-p15 DELETION SYNDROME BIRK-LANDAU-PEREZ SYNDROME; BILAPES