Primary Dystonia, Dyt6 Type

Description

Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.

Clinical Features

Top most frequent phenotypes and symptoms related to Primary Dystonia, Dyt6 Type

  • Delayed speech and language development
  • Dysarthria
  • Dystonia
  • Myoclonus
  • Abnormality of movement
  • Torticollis
  • Dysphonia
  • Limb dystonia
  • Generalized dystonia
  • Blepharospasm

And another 8 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

Primary Dystonia, Dyt6 Type Is also known as generalized cervical and upper-limb-onset dystonia, dyt6, idiopathic torsion dystonia of mixed type, torsion dystonia, adult-onset, mixed type.

Researches and researchers

Doctors, researchs, and experts related to Primary Dystonia, Dyt6 Type extracted from public data.

Primary Dystonia, Dyt6 Type Experts map



Current Researchs and researchers

  • WÜRZBURG — Pr Michael SENDTNER

    Investigator of research project

    • Institution/s:
      — Institut für Klinische Neurobiologie der Universität Würzburg
    • Research area/topic::

      DYSTRACT: Generation of novel DYT1, DYT6 and DYT12 mouse and rat models of dystonia



Mendelian

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Primary Dystonia, Dyt6 Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Isolated Dystonia Evaluation.

By Athena Diagnostics Inc (United States).

THAP1, TOR1A
Specificity
50 %
Genes
100 %
THAP1 (DYT6) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

THAP1
Specificity
100 %
Genes
100 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Torsion Dystonia, Adult-Onset, Mixed type (DYT6).

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

THAP1
Specificity
100 %
Genes
100 %
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 %
Dystonia 6.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital (New Zealand).

THAP1
Specificity
100 %
Genes
100 %
THAP1.

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

THAP1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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