Central Core Disease Of Muscle; Ccd

Description

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

Clinical Features

Top most frequent phenotypes and symptoms related to Central Core Disease Of Muscle; Ccd

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cleft palate
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties
  • Motor delay

And another 36 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Central Core Disease Of Muscle; Ccd 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 %

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Sources and references

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OMIM Genetic Syndrome Finder

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