Central core disease
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Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from barely noticeable to very severe. The severity of muscle weakness may differ even among affected members of the same family.
Descrição
Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from barely noticeable to very severe. The severity of muscle weakness may differ even among affected members of the same family.
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 shoulders, upper legs, and hips. Muscle weakness in affected infants can delay the development of motor skills such as sitting, standing, and walking; most people with this condition are able to walk independently. Affected individuals may experience muscle pain (myalgia) or extreme fatigue in response to physical activity (exercise intolerance). Central core disease is also associated with eyes that do not look in the same direction (strabismus), a rounded upper back that also curves to the side (kyphoscoliosis), foot deformities, hip dislocation, and joint deformities called contractures that restrict the movement of certain joints. In severe cases, affected infants experience weakness in the muscles of the face, profound low muscle tone (hypotonia), and serious or life-threatening breathing problems.
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, either given alone or in combination with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk of malignant hyperthermia may experience a rapid increase in heart rate (tachycardia) and body temperature (hyperthermia), abnormally fast breathing (tachypnea), muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). The complications of malignant hyperthermia can be life-threatening unless they are treated promptly.
Central core disease gets its name from disorganized areas called central cores, which are typically found in the center of skeletal muscle cells, but can be at the edges or span the length of the cell, in many affected individuals. These abnormal regions can only been seen when muscle tissue is viewed under a microscope. These central cores are often present in cells with few or no mitochondria, which produce energy within cells. Although the presence of central 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.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
CCD
CCO
Central core myopathy
Myopathy, central core
Shy's disease
Shy-Magee syndrome
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Leitura adicional e referências
- Central core disease; MedlinePlus, National Library of Medicine.
- Fusto A, Moyle LA, Gilbert PM, Pegoraro E. Cored in the act: the use of models to understand core myopathies. Dis Model Mech. 2019 Dec 19;12(12):dmm041368. doi: 10.1242/dmm.041368.
- Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2.
- Jungbluth H. Central core disease. Orphanet J Rare Dis. 2007 May 15;2:25. doi: 10.1186/1750-1172-2-25.
- Lawal TA, Todd JJ, Meilleur KG. Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. Neurotherapeutics. 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1.
- Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA. Central core disease: clinical, pathological, and genetic features. Arch Dis Child. 2003 Dec;88(12):1051-5. doi: 10.1136/adc.88.12.1051.
- Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 Oct;27(10):977-89. doi: 10.1002/humu.20356.
- Treves S, Anderson AA, Ducreux S, Divet A, Bleunven C, Grasso C, Paesante S, Zorzato F. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord. 2005 Oct;15(9-10):577-87. doi: 10.1016/j.nmd.2005.06.008.
- Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 Jun;129(Pt 6):1470-80. doi: 10.1093/brain/awl077. Epub 2006 Apr 18.
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