Oculopharyngeal Muscular Dystrophy

Incidence and onset information

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.

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 Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Close 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 Panel complete gene list RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3, CAV3, LDB3, BSCL2, SELENON, TRIM32, SYNE2, SYNE1, FKRP, CFL2, CHAT, POMGNT1, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, COL6A1, COL6A2, COL6A3, COLQ, GNE, CRYAB, SIL1, MTMR14, DOK7, DAG1, ANO5, DES, PLEKHG5, DMD, DNM2, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, GLE1, AMPD1, IGHMBP2, ITGA7, LAMA2, LARGE1, LMNA, MTM1, MUSK, MYH2, MYH7, NEB, PABPN1, PLEC, PMM2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Close 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 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD PACHYDERMOPERIOSTOSIS