Adult-onset Cervical Dystonia, Dyt23 Type

Description

Adult-onset cervical dystonia, DYT23 type is a rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.

Clinical Features

Top most frequent phenotypes and symptoms related to Adult-onset Cervical Dystonia, Dyt23 Type

  • Tremor
  • Gait disturbance
  • Cerebellar atrophy
  • Dystonia
  • Arrhythmia
  • Myoclonus
  • Cerebral cortical atrophy
  • Difficulty walking
  • Abnormality of movement
  • Unsteady gait

And another 13 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

Adult-onset Cervical Dystonia, Dyt23 Type Is also known as dystonia 23, dyt23.

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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Adult-onset Cervical Dystonia, Dyt23 Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia (NGS panel for 43 genes).

By CGC Genetics (Portugal).

SGCE, SLC2A1, SLC6A3, SMPD1, SPR, TAF1, TH, TIMM8A, ACTB, CACNA1B, ANO3, NPC2, PANK2, BCAP31, VPS13A, TUBB4A, THAP1, COL6A3, SLC30A10, KCTD17 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Dystonia type 23.

By Centogene AG - the Rare Disease Company (Germany).

CACNA1B
Specificity
100 %
Genes
50 %
Dystonia All Panel.

By CeGaT GmbH (Germany).

SGCE, SLC25A15, SLC2A1, SPR, TAF1, TH, TIMM8A, CACNA1B, ANO3, NPC2, PANK2, SLC19A3, BCAP31, CIZ1, MED20, MLC1, ACY1, ARX, VPS13A, CLCN1 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Single gene testing CACNA1B.

By CeGaT GmbH (Germany).

CACNA1B
Specificity
100 %
Genes
50 %
Dystonia.

By Asper Biogene Asper Biogene LLC (Estonia).

SGCE, SLC25A1, SLC2A1, SLC6A3, SPR, TAF1, TBCE, TH, TIMM8A, ACTB, CACNA1B, ANO3, PANK2, TUBB4A, THAP1, SLC39A14, COL6A3, ADCY5, SLC30A10, KCTD17 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
CIZ1. Complete sequencing.

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

CIZ1
Specificity
100 %
Genes
50 %

We have 5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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