Dystonia 16

Description

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

Clinical Features

Top most frequent phenotypes and symptoms related to Dystonia 16

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Cognitive impairment
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait disturbance

And another 25 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

Dystonia 16 Is also known as dyt16, early-onset dystonia parkinsonism.

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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Dystonia 16 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PRKRA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PRKRA
Specificity
100 %
Genes
100 %
PRKRA Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PRKRA
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 %
PRKRA. Complete sequencing.

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

PRKRA
Specificity
100 %
Genes
100 %
Torsion dystonia 16 (DYT16, sequence analysis of PRKRA gene).

By CGC Genetics (Portugal).

PRKRA
Specificity
100 %
Genes
100 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics (Portugal).

SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, CSF1R, ADH1C, DCTN1 , (...)

View the complete list with 12 more genes
Specificity
4 %
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 %

We have 27 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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