Autosomal Dominant Focal Dystonia, Dyt25 Type

Description

Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms).

Clinical Features

Phenotypes and symptoms related to Autosomal Dominant Focal Dystonia, Dyt25 Type

  • Dystonia
  • Torticollis
  • Limb dystonia
  • Focal dystonia
  • Laryngeal dystonia
  • Torsion dystonia
  • Axial dystonia
  • Craniofacial dystonia
  • Lingual dystonia

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

Autosomal Dominant Focal Dystonia, Dyt25 Type Is also known as dyt25, dystonia 25.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Dominant Focal Dystonia, Dyt25 Type extracted from public data.

Autosomal Dominant Focal Dystonia, Dyt25 Type Experts map



Current Researchs and researchers

  • PARIS — Dr Denis HERVE

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — IFM - UMR-S 839 Inserm / UPMC, IFM - Institut du Fer à Moulin
    • Research area/topic::

      AMEDYST: Alterations of motor networks in primary dystonia - FR



Mendelian

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Autosomal Dominant Focal Dystonia, Dyt25 Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

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

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
GNAL.

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

GNAL
Specificity
100 %
Genes
100 %
Torsion dystonia 25 (DYT25, sequence analysis of GNAL gene).

By CGC Genetics (Portugal).

GNAL
Specificity
100 %
Genes
100 %
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
100 %
Dystonia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SGCE, SLC2A1, SPR, TAF1, TH, ANO3, TUBB4A, THAP1, PRRT2, TOR1A, GCH1, GNAL, ATP1A3, PNKD, PRKRA
Specificity
7 %
Genes
100 %
Dystonia via GNAL Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GNAL
Specificity
100 %
Genes
100 %
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 %
Dystonia 25.

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

GNAL
Specificity
100 %
Genes
100 %

We have 9 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 Symptoms Checker

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