Spinocerebellar Ataxia Type 34

Description

Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 34

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance
  • Cerebellar atrophy
  • Hyporeflexia
  • Babinski sign

And another 28 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 Type 34 Is also known as erythrokeratodermia with ataxia, sca34, spinocerebellar ataxia and erythrokeratodermia.

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 Type 34 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
ELOVL4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

ELOVL4
Specificity
100 %
Genes
100 %
ELOVL4 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

ELOVL4
Specificity
100 %
Genes
100 %
ELOVL4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ELOVL4
Specificity
100 %
Genes
100 %
Stargardt disease type 3 (sequence analysis of ELOVL4 gene).

By CGC Genetics (Portugal).

ELOVL4
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics (Portugal).

SACS, SLC1A3, SPTBN2, TTPA, VAMP1, VLDLR, CACNA1A, CACNB4, ELOVL4, ABHD12, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, CCDC88C, ELOVL5, SYT14, PLEKHG4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %

We have 43 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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