Dystonia 28, Childhood-onset; Dyt28

Description

Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Dystonia 28, Childhood-onset; Dyt28

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Spasticity
  • Cognitive impairment
  • Delayed speech and language development
  • Motor delay
  • Dysarthria

And another 20 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Dystonia 28, Childhood-onset; Dyt28 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 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By NBIA Testing Center Oregon Health & Science University (United States).

SCP2, SQSTM1, KMT2B, PANK2, TRIM32, VPS13A, MECR, SLC39A14, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University (United States).

SCP2, SQSTM1, KMT2B, PANK2, TRIM32, VPS13A, MECR, SLC39A14, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
6 %
Genes
100 %
KMT2B.

By Fulgent Genetics Fulgent Genetics (United States).

KMT2B
Specificity
100 %
Genes
100 %
Dystonia Panel.

By Blueprint Genetics (Finland).

SGCE, SLC2A1, SPR, TH, ANO3, KMT2B, BCAP31, THAP1, FA2H, ADCY5, DCAF17, PRRT2, TOR1A, GCH1, GNAL, ATP1A3, PDGFB, PDGFRB, PNKD, PRKRA
Specificity
5 %
Genes
100 %
Providence Personalized Medicine Panel - Solid Tumor.

By Providence Regional Laboratories Providence Health and Services (United States).

BCR, ROS1, RUNX1, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, FOXL2, BRAF, BRCA1, BRCA2, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMO, SOX2 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
100 %

We have 1 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20 MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B PAPILLOMA OF CHOROID PLEXUS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more