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Central core disease(CCD)

MedGen UID:
199773
Concept ID:
C0751951
Disease or Syndrome
Synonyms: CCD; Central core disease of muscle; Muscle core disease; Muscular central core disease; Myopathy, Central Core; Myopathy, central fibrillar; Shy-Magee syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Central core myopathy (43152001); Central core disease (43152001)
 
Gene (location): RYR1 (19q13.2)
OMIM®: 117000

Disease characteristics

Excerpted from the GeneReview: Central Core Disease
Central core disease (CCD) is characterized by muscle weakness ranging from mild to severe. Most affected individuals have mild disease with symmetric proximal muscle weakness and variable involvement of facial and neck muscles. The extraocular muscles are often spared. Motor development is usually delayed, but in general, most affected individuals acquire independent ambulation. Life span is usually normal. Severe disease is early in onset with profound hypotonia often accompanied by poor fetal movement, spinal deformities, hip dislocation, joint contractures, poor suck, and respiratory insufficiency requiring assisted ventilation. The outcome ranges from death in infancy to survival beyond age five years. Typically the weakness in CCD is not progressive.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
May Christine V Malicdan  |  Ichizo Nishino   view full author information

Additional descriptions

From OMIM
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; 145600). 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).  http://www.omim.org/entry/117000
From GHR
Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. This weakness affects the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. Muscle weakness causes affected infants to appear "floppy" and can delay the development of motor skills such as sitting, standing, and walking. In severe cases, affected infants experience profoundly weak muscle tone (hypotonia) and serious or life-threatening breathing problems. Central core disease is also associated with skeletal abnormalities such as abnormal curvature of the spine (scoliosis), hip dislocation, and joint deformities called contractures that restrict the movement of certain joints. Many people with central core disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a particular type of muscle relaxant. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly. Central core disease gets its name from disorganized areas called cores, which are found in the center of muscle fibers in many affected individuals. These abnormal regions can only be seen under a microscope. Although the presence of cores can help doctors diagnose central core disease, it is unclear how they are related to muscle weakness and the other features of this condition.  http://ghr.nlm.nih.gov/condition/central-core-disease

Clinical features

Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Congenital hip dislocation
MedGen UID:
504819
Concept ID:
CN001259
Finding
Kyphoscoliosis
MedGen UID:
425109
Concept ID:
CN002496
Finding
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Finding
A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including: - Medicines. - Heat exhaustion. - Cancers. - Autoimmune diseases. Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.
Malignant hyperthermia
MedGen UID:
505071
Concept ID:
CN001851
Finding
Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.
Neonatal hypotonia
MedGen UID:
331807
Concept ID:
C1834679
Finding
Generalized muscle weakness
MedGen UID:
334473
Concept ID:
C1843698
Finding
Type 1 muscle fiber predominance
MedGen UID:
344274
Concept ID:
C1854387
Finding
Nemaline bodies
MedGen UID:
814369
Concept ID:
C3808039
Finding
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Skeletal muscle atrophy
MedGen UID:
505481
Concept ID:
CN002890
Finding
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Congenital hip dislocation
MedGen UID:
504819
Concept ID:
CN001259
Finding
Pes planus
MedGen UID:
427894
Concept ID:
CN001603
Finding
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.

Professional guidelines

PubMed

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Eur J Hum Genet 2012 Feb;20(2) Epub 2011 Oct 12 doi: 10.1038/ejhg.2011.179. [Epub ahead of print] PMID: 21989361Free PMC Article

Recent clinical studies

Etiology

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Diagnosis

Kraeva N, Zvaritch E, Rossi AE, Goonasekera SA, Zaid H, Frodis W, Kraev A, Dirksen RT, Maclennan DH, Riazi S
Neuromuscul Disord 2013 Feb;23(2):120-32. Epub 2012 Nov 24 doi: 10.1016/j.nmd.2012.08.007. [Epub ahead of print] PMID: 23183335Free PMC Article
Chang X, Jin Y, Zhao H, Huang Q, Wang J, Yuan Y, Han Y, Qin J
J Child Neurol 2013 Mar;28(3):384-8. Epub 2012 May 1 doi: 10.1177/0883073812441251. [Epub ahead of print] PMID: 22550088
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Eur J Hum Genet 2012 Feb;20(2) Epub 2011 Oct 12 doi: 10.1038/ejhg.2011.179. [Epub ahead of print] PMID: 21989361Free PMC Article
Schreuder LT, Nijhuis-van der Sanden MW, de Hair A, Peters G, Wortmann S, Bok LA, Morava E
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Therapy

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Prognosis

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Clinical prediction guides

Cuperman T, Fernandes SA, Lourenço NC, Yamamoto LU, Silva HC, Pavanello RC, Yamamoto GL, Zatz M, Oliveira AS, Vainzof M
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Schreuder LT, Nijhuis-van der Sanden MW, de Hair A, Peters G, Wortmann S, Bok LA, Morava E
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Recent systematic reviews

Orlov D, Keith J, Rosen D, Croul S, Kraeva N, Riazi S
Can J Anaesth 2013 Oct;60(10):982-9. Epub 2013 Jul 26 doi: 10.1007/s12630-013-0005-9. [Epub ahead of print] PMID: 23888335
Lehmann-Horn F, Jurkat-Rott K, Rüdel R; Ulm Muscle Centre
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