Oculopharyngeal Muscular Dystrophy

Description

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.

Clinical Features

Phenotypes and symptoms related to Oculopharyngeal Muscular Dystrophy

  • Ptosis
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Ophthalmoplegia
  • Ragged-red muscle fibers
  • Mask-like facies
  • Rimmed vacuoles
  • Spondylolisthesis
  • Abnormality of the pharynx
  • Abnormality of muscle fibers

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

Oculopharyngeal Muscular Dystrophy Is also known as opmd.

Researches and researchers

Doctors, researchs, and experts related to Oculopharyngeal Muscular Dystrophy extracted from public data.

Oculopharyngeal Muscular Dystrophy Experts map



Current Researchs and researchers

  • MONTPELLIER — Mr Martine SIMONELIG

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — IGH - UMR 9002 - CNRS - Université de Montpellier, Institut de Génétique Humaine (IGH)
    • Research area/topic::

      riboOPMD: Ribosomal and small non-coding RNAs in oculopharyngeal muscular dystrophy - FR


  • PARIS — Dr Capucine TROLLET

    Investigator of research project

    • Institution/s:
      — Centre de recherche en Myologie, Institut de Myologie - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Long and small non coding RNA in oculopharyngeal muscular dystrophy


  • LEIDEN — Dr J.A.H. [Just] EEKHOF

    Investigator of research project

    • Institution/s:
      — LUMC - Leids Universitair Medisch Centrum
    • Research area/topic::

      GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.


  • UTRECHT — Ms F. [Femke] SEESING

    Investigator of research project

    • Institution/s:
      — Piet van Dommelenhuis
    • Research area/topic::

      GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Oculopharyngeal Muscular Dystrophy 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 %

We have 22 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more