Facioscapulohumeral Dystrophy

Incidence and onset information

Alternative names

Facioscapulohumeral Dystrophy Is also known as fsh dystrophy, fshd, landouzy-dejerine myopathy, facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy.

Researches and researchers

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

Facioscapulohumeral Dystrophy Experts map

Current Researchs and researchers

• MARSEILLE — Dr Frédérique MAGDINIER

  Investigator of research project
  
  

  • Institution/s:
    — Faculté de Médecine de la Timone
  • Research area/topic::
    

    FSHDecipher: Molecular mechanisms of Facio-Scapulo-Humeral Dystrophy: from the contribution of genomics to the mecanisitic exploration of new regulatory pathways for the 4q35 locus



• MONTPELLIER — Pr Jacques MERCIER

  Principal investigator of clinical trial - Investigator of research project
  
  

  • Institution/s:
    — CHRU de Montpellier - Hôpital Arnaud de Villeneuve
  • Research area/topic::
    

    Effects of antioxidant supplementation in patients (Facio-scapulo-humeral dystrophy)



• MILANO — Dr Davide GABELLINI

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Dipartimento di Biotecnologie, IRCCS Ospedale San Raffaele
  • Research area/topic::
    

    FSHD muscular dystrophy provides a molecular understanding of the repetitive (epi) genome



• MILANO — Dr Elena BATTAGLIOLI

  Investigator of research project
  
  

  • Institution/s:
    — Università degli Studi di Milano - Biologia e Genetica per le Scienze Mediche
  • Research area/topic::
    

    Dissecting the epigenetic features at the basis of Facioscapolohumeral Distrophy (terminated)



• MODENA — Pr Rossella G. TUPLER

  Responsible for diagnostic tests - Investigator of research project - Manager of registry - Director of laboratory
  
  

  • Institution/s:
    — Dipartimento di Scienze Biomediche, Università degli Studi di Modena e Reggio Emilia
  • Research area/topic::
    

    Phenotypic and molecular characterization of FSHD families: a systematic approach towards trial readiness



• 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.



• LONDON — Dr Peter ZAMMIT

  Investigator of research project
  
  

  • Institution/s:
    — School of Biomedical sciences - King's College London
  • Research area/topic::
    

    Understanding and Ameliorating Pathogenesis in FSHD

Facioscapulohumeral Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Muscular Dystrophy Advanced Evaluation. By Athena Diagnostics Inc (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...) View the complete list with 13 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, TMEM43, SMCHD1, DMD, DYSF, EMD, FKTN, FHL1, ISPD, LMNA, PLEC, POMT1, CAVIN1 Close Specificity 4 % Genes 25 %
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 25 %
Facioscapulohumeral muscular dystrophy 2 (sequence analysis of SMCHD1 gene). By CGC Genetics (Portugal). SMCHD1 Specificity 100 % Genes 25 %
Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype). By CGC Genetics (Portugal). SMCHD1, DUX4 Specificity 100 % Genes 50 %
Congenital muscular dystrophies (NGS panel for 31 genes). By CGC Genetics (Portugal). TCAP, TTN, SELENON, SYNE2, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, GMPPB, ANO5, TMEM43, SMCHD1, DMD, DNM2, DPM2, DYSF , (...) View the complete list with 11 more genes Panel complete gene list TCAP, TTN, SELENON, SYNE2, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, GMPPB, ANO5, TMEM43, SMCHD1, DMD, DNM2, DPM2, DYSF, EMD, FKTN, FHL1, ISPD, ITGA7, LAMA2, LARGE1, LMNA, PABPN1, POMT1, CAVIN1 Close Specificity 4 % Genes 25 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK , (...) View the complete list with 13 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, ANO5, DES, SMCHD1, TOR1AIP1, PNPLA2, DYSF, FKTN, ISPD, GAA, HNRNPDL, LMNA, PLEC, POMT1 Close Specificity 4 % Genes 25 %
Facioscapulohumeral Muscular Dystrophy 2 via SMCHD1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SMCHD1 Specificity 100 % Genes 25 %
Comprehensive Neuromuscular Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...) View the complete list with 104 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CACNA1S, CCDC78, CAPN3, DNAJB6, CAV3, MICU1, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, KLHL41, SYNE1, TNPO3, BICD2, FKRP, MYO18B, KLHL9, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, SIL1, TRAPPC11, POMGNT2, POMK, DOK7, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, SMCHD1, DMD, TOR1AIP1, MEGF10, DNM2, ISCU, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, PNPLA2, DYSF, ECEL1, AGL, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, GLE1, HNRNPA1, HNRNPA2B1, HNRNPDL, ITGA7, LAMA2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYH2, MYH3, MYH7, NEB, ATP2A1, PFKM, PLEC, POMT1, BAG3, CAVIN1, PYGM, RAPSN Close Specificity 1 % Genes 25 %

Sources and references

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