Spinocerebellar Ataxia 7; Sca7

Description

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 7; Sca7

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Spasticity
  • Ptosis
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy

And another 39 symptoms. If you need more information about this disease we can help you.

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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 7; Sca7 Is also known as opca iii, opca with macular degeneration and external ophthalmoplegia, adca, type ii, olivopontocerebellar atrophy iii, opca3, opca with retinal degeneration, autosomal dominant cerebellar ataxia, type ii.

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.


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Spinocerebellar Ataxia 7; Sca7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA7 (ATXN7) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

ATXN7
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 7.

By Center for Human Genetics, Inc (United States).

ATXN7
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia type 7.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

ATXN7
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 7.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

ATXN7
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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