Central Core Disease

Description

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Central Core Disease

  • Muscular hypotonia
  • Motor delay
  • Talipes equinovarus
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Pes planus
  • Joint laxity
  • Muscle stiffness
  • Congenital hip dislocation
  • Respiratory insufficiency due to muscle weakness

And another 7 symptoms. If you need more information about this disease we can help you.

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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.

Researches and researchers

Doctors, researchs, and experts related to Central Core Disease extracted from public data.

Central Core Disease Experts map



Current Researchs and researchers

  • GRENOBLE — Pr Joël LUNARDI

    Responsible for diagnostic tests - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Département de biochimie, toxicologie et pharmacologie, CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
    • Research area/topic::

      Réseau analyses métaboliques et génétiques des hyperthermies malignes et des maladies à cores centraux


  • FERRARA — Pr Francesco ZORZATO

    Investigator of research project

    • Institution/s:
      — Sezione Di Patologia Generale, Università degli Studi di Ferrara
    • Research area/topic::

      Molecular pathology of ryanodine receptor mutants linked to central core disease and malignant hyperthermia (terminated)


  • PADOVA — Dr Gyorgy SZABADKAI

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Padova- Polo A.Vallisneri
    • Research area/topic::

      Targeting mitochondria in myopathies with RyR1 and MICU1 mutations


  • BASEL — Pr Thierry GIRARD

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Departement Biomedizin, Universitätsspital Basel
      — Departement Anästhesie, Universitätsspital Basel
      — Perioperative Patient Safety Group, Universitätsspital Basel
    • Research area/topic::

      Mutation Screening in RYR1 Gene in Patients with Malignant Hyperthermia and/or CCD


  • BASEL — Dr Soledad LEVANO

    Investigator of research project

    • Institution/s:
      — Perioperative Patient Safety Group, Universitätsspital Basel
    • Research area/topic::

      Mutation Screening in RYR1 Gene in Patients with Malignant Hyperthermia and/or CCD


  • BASEL — Pr Albert URWYLER

    Clinical expert - Responsible for diagnostic tests - Investigator of research project - Coordinator of expert centre network

    • Institution/s:
      — Departement Biomedizin, Universitätsspital Basel
      — Departement Anästhesie, Universitätsspital Basel
      — Perioperative Patient Safety Group, Universitätsspital Basel
    • Research area/topic::

      Mutation Screening in RYR1 Gene in Patients with Malignant Hyperthermia and/or CCD



Mendelian

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Central Core Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Malignant Hyperthermia Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, CACNA1S
Specificity
50 %
Genes
100 %
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)

View the complete list with 1 more genes
Specificity
5 %
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 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

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

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

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

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
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 %
Congenital Muscular Dystrophy.

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

RYR1, TCAP, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM3, FKTN, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMT1
Specificity
5 %
Genes
100 %
Congenital Muscular Myopathy.

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

RYR1, BIN1, TNNT1, TPM2, TPM3, ACTA1, SELENON, CFL2, CNTN1, DNM2, KBTBD13, MTM1, MYF6, MYH7, NEB
Specificity
7 %
Genes
100 %

We have 124 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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