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.
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
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Responsible for diagnostic tests - Investigator of research project - Coordinator of research networkGRENOBLE — Pr Joël LUNARDI
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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
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Institution/s:
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Investigator of research projectFERRARA — Pr Francesco ZORZATO
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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)
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Institution/s:
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Investigator of research projectPADOVA — Dr Gyorgy SZABADKAI
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Institution/s:
— Università degli Studi di Padova- Polo A.Vallisneri -
Research area/topic::
Targeting mitochondria in myopathies with RyR1 and MICU1 mutations
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Institution/s:
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Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of departmentBASEL — Pr Thierry GIRARD
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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
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Institution/s:
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Investigator of research projectBASEL — Dr Soledad LEVANO
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Institution/s:
— Perioperative Patient Safety Group, Universitätsspital Basel -
Research area/topic::
Mutation Screening in RYR1 Gene in Patients with Malignant Hyperthermia and/or CCD
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Institution/s:
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Clinical expert - Responsible for diagnostic tests - Investigator of research project - Coordinator of expert centre networkBASEL — Pr Albert URWYLER
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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
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Institution/s:
Central Core Disease Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Athena Diagnostics Inc (United States).
RYR1, CACNA1S
Specificity
50 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
You can get up to 124 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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