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.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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 %

We have 52 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3 BLOOD GROUP, VEL SYSTEM; VEL ANTITHROMBIN III DEFICIENCY; AT3D PRIMROSE SYNDROME; PRIMS COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more