Spinocerebellar Ataxia Type 43

Description

Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 43

  • Pain
  • Dysarthria
  • Areflexia
  • Hyporeflexia
  • Pes cavus
  • Dementia
  • Gait ataxia
  • Pectus carinatum
  • Unsteady gait
  • Peripheral axonal neuropathy

And another 12 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 43 Is also known as sca43.

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 43 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

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

SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)

View the complete list with 34 more genes
Specificity
2 %
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 %
MME.

By Fulgent Genetics Fulgent Genetics (United States).

MME
Specificity
100 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics (Finland).

SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics (Finland).

SGCA, SGCB, SGCD, SGCG, TCAP, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, DNAJB6, CAV3, MICU1, LDB3, RBCK1, SELENON, LIMS2, TRIM32 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics (Finland).

SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
CHARCOT-MARIE-TOOTH TYPE 2T.

By Laboratorio de Genetica Clinica SL (Spain).

MME
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics (Spain).

GDAP1, KIF1B, MFN2, TRPV4, AARS, LRSAM1, MED25, DYNC1H1, DNM2, HSPB8, GARS, HARS, HSPB1, IGHMBP2, LMNA, MME, MPZ, NAGLU, NEFL, RAB7A
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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