Central Core Disease

Common Name(s)

Central Core Disease

Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications.  Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected.   Muscle weakness in CCD usually does not worsen over time.  Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures).  Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat.   RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Central Core Disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Central Core Disease" returned 41 free, full-text research articles on human participants. First 3 results:

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.
 

Author(s): Natalia Kraeva, Elena Zvaritch, Ann E Rossi, Sanjeewa A Goonasekera, Hilal Zaid, Wanda Frodis, Alexander Kraev, Robert T Dirksen, David H Maclennan, Sheila Riazi

Journal: Neuromuscul. Disord.. 2013 Feb;23(2):120-32.

 

Central core disease, one of the most common congenital myopathies in humans, has been linked to mutations in the RYR1 gene encoding the Ca(2+) release channel of the sarcoplasmic reticulum (RyR1). Functional analyses showed that disease-associated RYR1 mutations led to impairment ...

Last Updated: 4 Feb 2013

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Pyroglutamate-Aβ 3 and 11 colocalize in amyloid plaques in Alzheimer's disease cerebral cortex with pyroglutamate-Aβ 11 forming the central core.
 

Author(s): Christopher P Sullivan, Eric A Berg, Rosemary Elliott-Bryant, Jordan B Fishman, Ann C McKee, Peter J Morin, Michael A Shia, Richard E Fine

Journal: Neurosci. Lett.. 2011 Nov;505(2):109-12.

 

N-terminal truncated amyloid beta (Aβ) derivatives, especially the forms having pyroglutamate at the 3 position (AβpE3) or at the 11 position (AβpE11) have become the topic of considerable study. AβpE3 is known to make up a substantial portion of the Aβ species in senile plaques ...

Last Updated: 14 Nov 2011

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Clinical utility gene card for: Central core disease.
 

Author(s): Suzanne Lillis, Stephen Abbs, Clemens R Mueller, Francesco Muntoni, Heinz Jungbluth

Journal: Eur. J. Hum. Genet.. 2012 Feb;20(2):.

 

Last Updated: 12 Jan 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Central Core Disease" returned 2 free, full-text review articles on human participants. First 3 results:

Myotubular/centronuclear myopathy and central core disease.
 

Author(s): Chieko Fujimura-Kiyono, Gabor Z Racz, Ichizo Nishino

Journal: Neurol India. ;56(3):325-32.

 

The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on ...

Last Updated: 31 Oct 2008

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Central core disease.
 

Author(s): Heinz Jungbluth

Journal:

 

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents ...

Last Updated: 6 Jun 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 17 Jun 2014

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Molecular and Genetic Studies of Congenital Myopathies
 

Status: Recruiting

Condition Summary: Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

 

Last Updated: 8 Apr 2013

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Alzheimer's Disease Core Center
 

Status: Recruiting

Condition Summary: Alzheimer's Disease; Mild Cognitive Impairment; Age-Related Memory Disorders

 

Last Updated: 19 May 2014

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