Facioscapulohumeral Dystrophy

Description

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

Clinical Features

Phenotypes and symptoms related to Facioscapulohumeral Dystrophy

  • Sensorineural hearing impairment
  • Skeletal muscle atrophy
  • Abnormality of cardiovascular system morphology
  • Elevated serum creatine phosphokinase
  • Hyperlordosis
  • EMG abnormality
  • Mask-like facies
  • Palpebral edema
  • Abnormal eyelash morphology
  • Abnormality of the retinal vasculature

Incidence and onset information

— Based on the latest data available FACIOSCAPULOHUMERAL DYSTROPHY have a estimated prevalence of 4.5 per 100k worldwide.
No data available about the known clinical features onset.

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



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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
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
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
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
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
Specificity
1 %
Genes
25 %

We have 18 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUMOR PREDISPOSITION SYNDROME; TPDS MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more