中心コアミオパチー、セントラルコアミオパチー
- 関
- central core disease
WordNet
- remove the core or center from; "core an apple"
- (computer science) a tiny ferrite toroid formerly used in a random access memory to store one bit of data; now superseded by semiconductor memories; "each core has three wires passing through it, providing the means to select and detect the contents of each bit" (同)magnetic core
- a bar of magnetic material (as soft iron) that passes through a coil and serves to increase the inductance of the coil
- the chamber of a nuclear reactor containing the fissile material where the reaction takes place
- a small group of indispensable persons or things; "five periodicals make up the core of their publishing program" (同)nucleus, core group
- a cylindrical sample of soil or rock obtained with a hollow drill
- the center of an object; "the ball has a titanium core"
- the central part of the Earth
- in or near a center or constituting a center; the inner area; "a central position"
- a workplace that serves as a telecommunications facility where lines from telephones can be connected together to permit communication (同)telephone exchange, exchange
- any pathology of the muscles that is not attributable to nerve dysfunction
PrepTutorEJDIC
- 〈C〉(果物の)『しん』 / 〈U〉(物事の)核心 / 〈C〉(電気の)磁心,磁極鉄心 / …‘の'しんを抜く
- 『中心の』,中央の,中心からの / 『主要な』,中心的な(main) / (音声が)中舌音の / 電話交換局(《英》[telephone]exchange)
- (驚いて)わあっ,えっ
- Congress of Racial Equality(米国)人種平等会議
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/06/02 21:58:34」(JST)
[Wiki en表示]
Central Core Disease
Central core myopathy |
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Histopathologic appearance of typical central core disease: NADH-TR, transverse section from the rectus femoris. Marked predominance of dark staining, high oxidative type 1 fibres with cores affecting the majority of fibres. Cores are typically well demarcated and centrally located (→), but may occasionally be multiple and of eccentric location.
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| Classification and external resources |
| Specialty |
neurology |
| ICD-10 |
G71.2 |
| ICD-9-CM |
359.0 |
| OMIM |
117000 |
| eMedicine |
neuro/76 |
| MeSH |
D020512 |
| GeneReviews |
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[edit on Wikidata]
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Central core disease (CCD), also known as central core myopathy, is an autosomal dominant[1] congenital myopathy (inborn muscle disorder). It was first described by Shy and Magee in 1956.[2][3] It is characterized by the appearance of the myofibril under the microscope.[4]
Contents
- 1 Signs and symptoms
- 2 Diagnosis
- 3 Pathophysiology
- 4 Treatment
- 5 References
Signs and symptoms
The symptoms of CCD are variable, but usually involve hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation.[2]
Symptoms may be present at birth or may appear at any stage of life. There appears to be a growing number of people who do not become symptomatic until adulthood to middle age. While generally not progressive, again there appears to be a growing number of people who do experience a slow clinically significant progression of symptomatology. These cases may hypothetically be due to the large number of gene mutations of ryanodine receptor malfunction, and with continued research may in fact be found to be clinical variants.[citation needed]
Diagnosis
The diagnosis is made on the combination of typical symptoms and the appearance on biopsy (tissue sample) from muscle. The name derives from the typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes.[2]
Respiratory insufficiency develops in a small proportion of cases. Creatine kinase and electromyography (EMG) tend to be normal.[2]
Pathophysiology
Central core disease has an autosomal dominant pattern of inheritance.
Central core disease is inherited in an autosomal dominant fashion. Most cases have demonstrable mutations in the ryanodine receptor type 1 (RYR1) gene,[1] which are often de novo (newly developed). People with CCD are at risk for malignant hyperthermia (MH) when receiving general anesthesia.[2]
Treatment
There is no specific treatment but triggering anesthetics are avoided and relatives are screened for RYR1 mutations as these may make them susceptible to MH.[2]
References
- ^ a b Robinson, Rl; Brooks, C; Brown, Sl; Ellis, Fr; Halsall, Pj; Quinnell, Rj; Shaw, Ma; Hopkins, Pm (August 2002). "RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes". Human Mutation 20 (2): 88–97. doi:10.1002/humu.10098. PMID 12124989.
- ^ a b c d e f Quinlivan RM, Muller CR, Davis M, et al. (2003). "Central core disease: clinical, pathological, and genetic features". Arch. Dis. Child. 88 (12): 1051–5. doi:10.1136/adc.88.12.1051. PMC 1719384. PMID 14670767.
- ^ Magee KR, Shy GM (1956). "A new congenital non-progressive myopathy". Brain 79 (4): 610–21. doi:10.1093/brain/79.4.610. PMID 13396066.
- ^ "central core disease" at Dorland's Medical Dictionary
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Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
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Neuromuscular-
junction disease |
- autoimmune
- Myasthenia gravis
- Lambert–Eaton myasthenic syndrome
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Myopathy/
congenital myopathy |
Muscular dystrophy
(DAPC) |
| AD |
- Limb-girdle muscular dystrophy 1
- Oculopharyngeal
- Facioscapulohumeral
- Myotonic
- Distal (most)
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| AR |
- Limb-girdle muscular dystrophy 2
- Congenital
- Fukuyama
- Ullrich
- Walker–Warburg
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| XR |
- dystrophin
- Emery–Dreifuss
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| Other structural |
- collagen disease
- PTP disease
- adaptor protein disease
- BIN1-linked centronuclear myopathy
- cytoskeleton disease
- Nemaline myopathy
- Zaspopathy
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| Channelopathy |
| Myotonia |
- Myotonia congenita
- Thomsen disease
- Neuromyotonia/Isaacs syndrome
- Paramyotonia congenita
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| Periodic paralysis |
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| Other |
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| Mitochondrial myopathy |
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| Other |
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Diseases of ion channels
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| Calcium channel |
| Voltage-gated |
- CACNA1A
- Familial hemiplegic migraine 1
- Episodic ataxia 2
- Spinocerebellar ataxia type-6
- CACNA1C
- Timothy syndrome
- Brugada syndrome 3
- Long QT syndrome 8
- CACNA1F
- CACNA1S
- Hypokalemic periodic paralysis 1
- Thyrotoxic periodic paralysis 1
- CACNB2
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| Ligand gated |
- RYR1
- Malignant hyperthermia
- Central core disease
- RYR2
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|
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| Sodium channel |
| Voltage-gated |
- SCN1A
- Familial hemiplegic migraine 3
- GEFS+ 2
- Febrile seizure 3A
- SCN1B
- Brugada syndrome 6
- GEFS+ 1
- SCN4A
- Hypokalemic periodic paralysis 2
- Hyperkalemic periodic paralysis
- Paramyotonia congenita
- Potassium-aggravated myotonia
- SCN4B
- SCN5A
- Brugada syndrome 1
- Long QT syndrome 3
- SCN9A
- Erythromelalgia
- Febrile seizure 3B
- Paroxysmal extreme pain disorder
- Congenital insensitivity to pain
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| Constitutively active |
- SCNN1B/SCNN1G
- SCNN1A/SCNN1B/SCNN1G
- Pseudohypoaldosteronism 1AR
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| Potassium channel |
| Voltage-gated |
- KCNA1
- KCNA5
- Familial atrial fibrillation 7
- KCNC3
- Spinocerebellar ataxia type-13
- KCNE1
- Jervell and Lange-Nielsen syndrome
- Long QT syndrome 5
- KCNE2
- KCNE3
- KCNH2
- KCNQ1
- Jervell and Lange-Nielsen syndrome
- Romano–Ward syndrome
- Short QT syndrome
- Long QT syndrome 1
- Familial atrial fibrillation 3
- KCNQ2
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| Inward-rectifier |
- KCNJ1
- KCNJ2
- Andersen–Tawil syndrome
- Long QT syndrome 7
- Short QT syndrome)
- KCNJ11
- KCNJ18
- Thyrotoxic periodic paralysis 2
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|
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| Chloride channel |
- CFTR
- Cystic fibrosis
- Congenital absence of the vas deferens
- CLCN1
- Thomsen disease
- Myotonia congenita
- CLCN5
- CLCN7
- BEST1
- Vitelliform macular dystrophy
- CLCNKB
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| TRP channel |
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| Connexin |
- GJA1
- Oculodentodigital dysplasia
- Hallermann–Streiff syndrome
- Hypoplastic left heart syndrome
- GJB1
- Charcot–Marie–Tooth disease X1
- GJB2
- Keratitis–ichthyosis–deafness syndrome
- Ichthyosis hystrix
- Bart–Pumphrey syndrome
- Vohwinkel syndrome)
- GJB3/GJB4
- Erythrokeratodermia variabilis
- Progressive symmetric erythrokeratodermia
- GJB6
- Clouston's hidrotic ectodermal dysplasia
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| Porin |
- AQP2
- Nephrogenic diabetes insipidus 2
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See also: ion channels
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UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Impaired tropomyosin-troponin interactions reduce activation of the actin thin filament.
- Robaszkiewicz K1, Ostrowska Z1, Cyranka-Czaja A2, Moraczewska J3.
- Biochimica et biophysica acta.Biochim Biophys Acta.2015 Jan 17. pii: S1570-9639(15)00015-1. doi: 10.1016/j.bbapap.2015.01.004. [Epub ahead of print]
- Tropomyosin and troponin are bound to the actin filament to control the contraction of striated muscle in the Ca-dependent manner. The interactions between both regulatory proteins important for the regulation process are not fully understood. To gain more insight into the mechanisms of the thin fil
- PMID 25603119
- Potassium dependent rescue of a myopathy with core-like structures in mouse.
- Hanson MG1, Wilde JJ1, Moreno RL2, Minic AD1, Niswander L1.
- eLife.Elife.2015 Jan 7;4. doi: 10.7554/eLife.02923. [Epub ahead of print]
- Myopathies decrease muscle functionality. Mutations in ryanodine receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures in the muscle fiber. Here we identify a mouse RyR1 model in which heterozygous animals display clinical and pathological hallmarks of myopathy
- PMID 25564733
- Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
- Lee JS1, Lim BC, Kim KJ, Hwang YS, Seong MW, Park SS, Park SH, Chae JH.
- Pediatrics international : official journal of the Japan Pediatric Society.Pediatr Int.2014 Dec;56(6):e88-91. doi: 10.1111/ped.12442.
- Central core disease is a congenital myopathy caused by mutations in RYR1. A 6-year-old girl was admitted due to difficulty in running and climbing stairs. Another 13 members through the four generations had similar symptoms, indicating autosomal dominant inheritance. Muscle biopsy showed the charac
- PMID 25521991
Japanese Journal
- The journal of veterinary medical science 66(8), 997-1001, 2004-08-25
- NAID 110003886500
- Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy
Related Links
- Central Core Myopathy NeuroLearn NeuroHelp Muscle @ Background Histopathology & Immunohistochemistry BACKGROUND AND CLINICAL INFORMATION: Head Clinical features Genetics Summary: This is the first congenital ...
- 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 ...
★リンクテーブル★
[★]
- 英
- central core myopathy
- 関
- 中心コア病、セントラルコアミオパチー
[★]
- 英
- central core myopathy
- 関
- 中心コアミオパチー
[★]
- 中心の、中心的な、中心性の、中枢的な、中枢性の、中枢の、中枢神経性の
- 関
- center、centrally、centrally acting、centre、centro、centrum、hub、medial、pivotal、pivotally
[★]
- 関
- (n.)precordia 前胸部、(adj.)precordial 前胸部の
[★]