Central Core Myopathy (Central Core Disease)

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133 relevant articles (2 outcomes, 7 trials/studies) found for this Disease

Description: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)

Also Known As:

Central Core Disease; Myopathy, Central Core; Central Core Diseases; Central Core Myopathies; Myopathies, Central Core; Shy Magee Syndrome; Syndrome, Shy-Magee; Shy-Magee Syndrome

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 83

Muscular Diseases: 4129

Congenital Structural Myopathies: 108

Central Core Myopathy: 133

Nervous System Diseases: 3406

Neuromuscular Diseases: 742

Muscular Diseases: 4129

Congenital Structural Myopathies: 108

Central Core Myopathy: 133

Related Diseases

1.	Muscular Diseases (Myopathy)
2.	Congenital Structural Myopathies (Centronuclear Myopathy)
3.	Syndrome
4.	Malignant Hyperthermia
5.	Nemaline Myopathies (Nemaline Myopathy)

Experts

1.	Dirksen, Robert T: 4 articles (01/2007 - 07/2002)
2.	Ferreiro, Ana: 3 articles (01/2007 - 06/2002)
3.	Ducreux, Sylvie: 3 articles (01/2007 - 10/2004)
4.	Treves, Susan: 3 articles (01/2007 - 10/2004)
5.	Zorzato, Francesco: 3 articles (01/2007 - 10/2004)
6.	Monnier, Nicole: 3 articles (04/2006 - 06/2002)
7.	Avila, Guillermo: 3 articles (11/2004 - 07/2002)
8.	Shaw, Marie-Anne: 2 articles (10/2006 - 08/2002)
9.	Jungbluth, Heinz: 2 articles (04/2006 - 06/2002)
10.	Muntoni, Francesco: 2 articles (04/2006 - 10/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Central Core Myopathy:

1.	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 10/15/2004 - "In this study we report for the first time the functional properties of human myotubes isolated from patients harboring the native RYR1 I4898T and R4893W mutations linked to central core disease" 03/07/2008 - "Previous work has shown that Ca(2+) release is impaired by mutations in RyR1 linked to Central Core Disease and Multiple Minicore Disease" 01/08/2008 - "We recently reported that almost all patients with central core disease (CCD) with ryanodine receptor 1 gene (RYR1) mutations in the C-terminal domain had type 1 fibers, nearly exclusively, in addition to typical central cores" 11/20/2007 - "A heterozygous Ile4898 to Thr (I4898T) mutation in the human type 1 ryanodine receptor/Ca(2+) release channel (RyR1) leads to a severe form of central core disease" 05/01/2007 - "Central core disease due to recessive mutations in RYR1 gene: is it more common than described?" Order ALL the reference details at left...
2.	Dynamin IIIBA 01/01/2007 - "These characteristic findings on muscle MRI confirm similar findings reported for CT imaging in dynamin 2 related dominant centronuclear myopathy and may help to differentiate this disorder from central core disease and other myopathies." Order ALL the reference details at left...
3.	CalciumIBA 12/01/2000 - "Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, malignant hyperthermia and central core disease" 02/15/2003 - "We have identified a patient affected by a relatively severe form of central core disease (CCD), carrying a heterozygous deletion (amino acids 4863-4869) in the pore-forming region of the sarcoplasmic reticulum calcium release channel" 02/01/2003 - "Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1)" 12/01/2001 - "Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis." 09/01/2001 - "Central core disease (CCD) is a human myopathy that involves a dysregulation in muscle Ca(2)+ homeostasis caused by mutations in the gene encoding the skeletal muscle ryanodine receptor (RyR1), the protein that comprises the calcium release channel of the SR. Although genetic studies have clearly demonstrated linkage between mutations in RyR1 and CCD, the impact of these mutations on release channel function and excitation-contraction coupling in skeletal muscle is unknown" Order ALL the reference details at left...
4.	Proteins (Proteins, Gene)IBA 06/01/1994 - "Expression of cytoskeleton proteins in central core disease." 11/01/2007 - "However, five muscle biopsies from central core disease presumably with disturbed intracellular Ca2+ homeostasis and a muscle biopsy from paramyotonia congenita with myotonia showed no activation of these proteins" 10/01/1995 - "Familial hypertrophic cardiomyopathy, central core disease, nemaline myopathy, and autosomal recessive limb-girdle muscular dystrophy have all been shown to involve mutations in proteins associated with the sarcomere." 06/01/2006 - "We review SR structure and function during normal skeletal muscle activity, the proteins that orchestrate calcium storage, release, and reuptake, and how phenotypically distinct muscle diseases (e.g., malignant hyperthermia, central core disease, and Brody disease) can result from subtle alterations in the activity of several key components of the SR calcium-regulatory machinery." 09/01/2000 - "Abnormalities in these proteins play a key role in malignant hyperthermia (MH), a toxic response to anesthetics, and in central core disease (CCD), a muscle myopathy" Order ALL the reference details at left...
5.	AntibodiesIBA 01/15/2003 - "An examination of biopsies from patients with multi-minicore myopathy, central core myopathy and neurogenic target fibers with core-like target formations (TF) revealed strong reactivity of all the cores and target formations with two different anti-filamin C antibodies" 08/01/1998 - "Studies of candidate proteins, such as nebulin in nemaline myopathy, and the ryanodine receptor in central core disease, are, however, in progress, and as more defective genes are identified, and antibodies become available, immunocytochemistry will have an increasingly important role" Order ALL the reference details at left...
6.	nebulinIBA 08/01/1998 - "Studies of candidate proteins, such as nebulin in nemaline myopathy, and the ryanodine receptor in central core disease, are, however, in progress, and as more defective genes are identified, and antibodies become available, immunocytochemistry will have an increasingly important role" Order ALL the reference details at left...
7.	PotassiumIBA 10/01/2001 - "Alteration of Ca channels cause muscle dysfunction periodic paralysis with or without potassium changes, myasthenia or myasthenic disorders, like Lambert Eaton syndrome, amyotrophic lateral sclerosis, Central Core disease, malignant hyperthermia" 01/01/1984 - "A large increase in sodium (Na) and chlorine (Cl), and a decrease in potassium (K) was typical of myotubular myopathy, while a moderate increase in Na and Cl was found in central core disease and nemaline myopathy" 01/01/2001 - "1) Sodium channelopathies: familial generalized epilepsy with febrile seizures plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile epilepsy, episodic ataxia type 1; (3) calcium channelopathies: episodic ataxia type 2, spinocerebellar ataxia type 6, familial hemiplegic migraine, hypokalemic periodic paralysis, central core disease, malignant hyperthermia syndrome, congenital stationary night blindness; (4) chloride channelopathies: myotonia congenitas; (5) ACh receptor channelopathies: autosomal dominant frontal lobe nocturnal epilepsy, congenital myasthenic syndromes; (6) glycine receptor channelopathies: hyperekplexia" Order ALL the reference details at left...
8.	NAD (NADH)IBA 05/01/1993 - "Light microscopic examination of the NADH-stained biopsies revealed the presence of central core disease (CCD) of skeletal muscle, a rare autosomal dominant nonprogressive myopathy characterized by a predominance of type I "slow" fibers and an absence of mitochondria in the center of many type I fibers" 11/01/1976 - "Muscle fibers strongly reactive for both adenosinetriphosphatase and nicotinamide-adenine dinucleotide diaphorase, observed in central core disease and mitochondrial myopathy, were not associated with increased terminal innervation ratio." 07/01/1997 - "Under nicotinamide adenine dinucleotide dehydrogenase (NADH) and succinate dehydrogenase (SDH) stains, core structures were identified and the diagnosis of central core disease (CCD) was made" Order ALL the reference details at left...
9.	Creatine Kinase (Creatine Phosphokinase)IBA 04/01/1978 - "Patients with central core disease appear to be more susceptible to MH; possibly those with elevated serum creatine phosphokinase levels, as in our patient, are especially susceptible" 03/30/1974 - "Central core disease associated with elevated creatine phosphokinase levels" 10/01/1998 - "Central core disease (CCD) is a well recognized, relatively mild, non- or slowly progressive, dominantly inherited, congenital myopathy due, at least in some families, to mutations in the ryanodine receptor gene on chromosome 19q13.1. We report two unrelated cases with an unusual, early onset congenital myopathy with severe contractures, delayed motor milestones, proximal muscle weakness, normal serum creatine kinase (CK), a non-progressive course, with muscle biopsy findings of central cores and in addition, marked proliferation of connective and adipose tissue, and variation in fibre size" Order ALL the reference details at left...
10.	Carnitine (L-Carnitine)FDA LinkGeneric 10/01/1987 - "A precise etiological diagnosis or a strong presumption was possible in 12 of 33 cases: 2 with hereditary deficiency of the fatty acids beta-oxidation, 1 carnitine systemic deficiency, 1 Friedreich ataxia, 1 central core disease, 1 coxsackie B1 myocarditis, 6 strong suspicions of respiratory chain deficiency." 10/01/1983 - "In many of these cases biopsy investigations do disclose, out of rhabdomyolysis, a preexistent myopathy, usually dysmetabolic in origin, and often with familial incidence (lipid myopathies; carnitine palmityl-transferase deficiency; mitochondrial myopathies; glycogenoses; hypokaliaemia--but also central core diseases, tubular aggregates myopathy a.s.o.)" 01/01/2000 - "CI has been found in Duchenne muscular dystrophy (MD), Becker MD, Emery-Dreifuss MD, facioscapulohumeral MD, sarcoglycanopathies, myotubular congenital MD, myotonic dystrophies type 1 and 2, proximal myotonic myopathy, myoadenylate deaminase deficiency, glycogenosis type II, III, IV, VII and IX, carnitine deficiency, mitochondriopathy, desmin MP, nemaline MP, central core disease, multicore MP, congenital fiber-type disproportion MP, Barth syndrome, McLeod syndrome and Bethlem MP" Order ALL the reference details at left...

Therapies and Procedures

1.	Spinal Fusion (Spondylosyndesis) 01/15/2005 - "STUDY DESIGN: A case report of two siblings (ages 14 and 17 years) with central core disease and prior malignant hyperthermia successfully treated with spinal fusion surgery for severe kyphoscoliosis" 01/15/2005 - "METHODS: Two siblings with central core disease, history of malignant hyperthermia, and severe kyphosing scoliosis (187 degrees and 108 degrees) underwent correction of deformity and spinal fusion surgery" Order ALL the reference details at left...
2.	Walking 03/01/1994 - "Since kyphoscoliosis becomes prominent as muscle weakness progresses to loss of ambulation in most muscle diseases, this disproportionate spinal involvement in central core disease appears to be a striking feature" 07/01/1997 - "Since kyphoscoliosis usually becomes prominent as muscle weakness progresses to loss of ambulation in other myopathies, the disproportionate spinal involvement in central core disease appears to be a striking feature" Order ALL the reference details at left...
3.	Anesthesia 04/01/1978 - "Prevention of the full manifestations of MH is predicated on (1) a high index of suspicion in the search for history of anesthetic complications in the patient and his family, with or without evident neuromuscular disease, (2) recognition that there is a somewhat greater risk of MH developing in a patient who has certain "musculoskeletal" abnormalities or muscle weakness but that is not-except for central core disease-a classic clinicopathologically defined disease, (3) close monitoring of patients during anesthesia, and (4) if the syndrome develops, prompt therapeutic measures, including cessation of anesthesia." 10/01/1991 - "Malignant hyperthermia during sevoflurane anesthesia in a child with central core disease." Order ALL the reference details at left...
4.	Heart Transplantation (Grafting, Heart) 06/01/1992 - "Heart transplantation in a patient with central core disease." Order ALL the reference details at left...
5.	Mechanical Ventilators (Ventilator) 02/01/2006 - "This case was presented to emphasize that patients with respiratory distress who cannot be weaned from the ventilator should be evaluated for central core disease with an atypical presentation." Order ALL the reference details at left...

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