Blepharospasm, Benign Essential, Susceptibility To

Description

Blepharospasm is a form of primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. In severe cases, this can lead to functional blindness (summary by Misbahuddin et al., 2002).

Clinical Features

Top most frequent phenotypes and symptoms related to Blepharospasm, Benign Essential, Susceptibility To

  • Tremor
  • Fatigue
  • Blindness
  • Dystonia
  • Involuntary movements
  • Torticollis
  • Hyperkinesis
  • Muscle fibrillation
  • Keratoconjunctivitis sicca
  • Protruding tongue

And another 5 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.

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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Blepharospasm, Benign Essential, Susceptibility To Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (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 62 more genes
Specificity
2 %
Genes
100 %
Dystonia Dyskinesia NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

SCP2, SGCE, SLC6A3, SPR, TAF1, THAP1, DRD2, DRD5, PRRT2, TOR1A, MR1, ATP1A3, PNKD, PRKRA
Specificity
8 %
Genes
100 %
DRD5.

By Fulgent Genetics Fulgent Genetics (United States).

DRD5
Specificity
100 %
Genes
100 %

We have -3 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 Genetic Syndrome Finder

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