Oculopharyngeal Muscular Dystrophy; Opmd

Clinical Features

Top most frequent phenotypes and symptoms related to Oculopharyngeal Muscular Dystrophy; Opmd

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance
  • Dysphagia
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Facial palsy

And another 17 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.)
— The onset for some of the known clinical features related to this disease may vary, including late onset .

Alternative names

Oculopharyngeal Muscular Dystrophy; Opmd Is also known as muscular dystrophy, oculopharyngeal.

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.

Oculopharyngeal Muscular Dystrophy; Opmd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
OPMD DNA Test.

By Athena Diagnostics Inc (United States).

PABPN1
Specificity
100 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Oculopharyngeal muscular dystrophy.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

PABPN1
Specificity
100 %
Genes
100 %
Oculopharyngeal muscular dystrophy.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

PABPN1
Specificity
100 %
Genes
100 %
Oculopharyngeal muscular dystrophy.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

PABPN1
Specificity
100 %
Genes
100 %
Comprehensive Neuromuscular Panel.

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

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
PABPN1. GCG expansion detection by PCR.

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

PABPN1
Specificity
100 %
Genes
100 %
Oculopharyngeal muscular dystrophy (GCG expansion on PABPN1 gene).

By CGC Genetics (Portugal).

PABPN1
Specificity
100 %
Genes
100 %

You can get up to 22 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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