Dystonia 26, Myoclonic; Dyt26
Description
Myoclonic dystonia-26 is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015).
Clinical Features
Top most frequent phenotypes and symptoms related to Dystonia 26, Myoclonic; Dyt26
- Dysarthria
- Tremor
- Dystonia
- Depressivity
- Myoclonus
- Anxiety
- Abnormality of movement
- Torticollis
- Dysphonia
- Blepharospasm
And another 3 symptoms. If you need more information about this disease we can help you.
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.
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.Dystonia 26, Myoclonic; Dyt26 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 % |
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 % |
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 % |
DYT26, myoclonic.
By Centogene AG - the Rare Disease Company (Germany).
KCTD17
Specificity
100 %
Genes
100 % |
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
2 %
Genes
100 % |
Single gene testing KCTD17.
By CeGaT GmbH (Germany).
KCTD17
Specificity
100 %
Genes
100 % |
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
100 % |
MYOCLONUS DYSTONIA (DYT11).
By Laboratorio de Genetica Clinica SL (Spain).
SGCE, TH, KCTD17, DRD2, GCH1
Specificity
20 %
Genes
100 % |
You can get up to 1 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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