肌中央軸空病

Central core myopathy
类型	congenital structural myopathy[]、congenital myopathy with cores[]
分类和外部资源
醫學專科	神經學
ICD-11	8C72.02
OMIM	117000
eMedicine	1175852
Orphanet	597
	[编辑此条目的维基数据]

肌中央軸空病(central core disease (CCD)、central core myopathy)是一種體染色體顯性遺傳病，於1956年發現^[1]^[2] 。^[3]其會導致先天性肌肉病變，導致骨骼肌無法正常收縮，肌肉無力。在顯微鏡下可見肌肉纖維中可發現有肌原纖維（英语：Myofibril）結構破壞的組成^[4]。

病徵包括肩膀、大腿及腎部的肌肉乏力，容易出現肌肉疼痛及疲勞。這可進一步導致斜視、扁平足等肌肉乏力的衍生問題^[5]。大多數患者都於嬰幼兒時間發病^[6]。

其在全球的發生率約為未明。本病暫時沒有藥物可用^[5]。

遺傳方面，其遺傳方式為散發性發生，但有一些為體染色體顯性遺傳模式。

參考資料

^ Quinlivan RM, Muller CR, Davis M, et al. Central core disease: clinical, pathological, and genetic features. Arch. Dis. Child. 2003, 88 (12): 1051–5. PMC 1719384 . PMID 14670767. doi:10.1136/adc.88.12.1051.
^ Magee KR, Shy GM. A new congenital non-progressive myopathy. Brain. 1956, 79 (4): 610–21. CiteSeerX 10.1.1.1026.496 . PMID 13396066. doi:10.1093/brain/79.4.610.
^ Robinson, Rl; Brooks, C; Brown, Sl; Ellis, Fr; Halsall, Pj; Quinnell, Rj; Shaw, Ma; Hopkins, Pm. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Human Mutation. August 2002, 20 (2): 88–97. PMID 12124989. doi:10.1002/humu.10098.
^ 道兰氏医学词典中的central core disease
^ ^5.0 ^5.1 香港中文大學罕見病群體學生義工服務隊. 趙偉堅、杜潔心、周鴻揚 , 编. 尋找四葉草──十七位罕見病友的生命故事. 2022年. ISBN 978-988-76441-0-1.
^ Talwalkar, SS; Parker, JR; Heffner, RR; Parker, JC. Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature.. Clin Neuropathol. 2006, 25 (4): 180–4. PMID 16866299.

外部連結

[Quinlivan-1] Quinlivan RM, Muller CR, Davis M, et al. Central core disease: clinical, pathological, and genetic features. Arch. Dis. Child. 2003, 88 (12): 1051–5. PMC 1719384 . PMID 14670767. doi:10.1136/adc.88.12.1051.

[2] Magee KR, Shy GM. A new congenital non-progressive myopathy. Brain. 1956, 79 (4): 610–21. CiteSeerX 10.1.1.1026.496 . PMID 13396066. doi:10.1093/brain/79.4.610.

[ryr-3] Robinson, Rl; Brooks, C; Brown, Sl; Ellis, Fr; Halsall, Pj; Quinnell, Rj; Shaw, Ma; Hopkins, Pm. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Human Mutation. August 2002, 20 (2): 88–97. PMID 12124989. doi:10.1002/humu.10098.

[4] 道兰氏医学词典中的central core disease

[clover-5] 5.0 ^5.1 香港中文大學罕見病群體學生義工服務隊. 趙偉堅、杜潔心、周鴻揚 , 编. 尋找四葉草──十七位罕見病友的生命故事. 2022年. ISBN 978-988-76441-0-1.

[6] Talwalkar, SS; Parker, JR; Heffner, RR; Parker, JC. Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature.. Clin Neuropathol. 2006, 25 (4): 180–4. PMID 16866299.

[1]

[2]

[3]

[4]

[5]

[6]