WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/03/11 17:01:46」(JST)

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Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder.

Danon disease is associated with heart muscle abnormalities resembling severe hypertrophic cardiomyopathy.^[1]

Genetics[edit]

It is associated with LAMP2.^[2] The status of this condition as a GSD has been disputed.^[3]

History[edit]

It was characterized by Moris Danon in 1981.^[4]

The first description of Danon Disease was in 1981 when 2 boys with heart and skeletal muscle disease (muscle weakness) and mental retardation were described. The disease is named after Dr. Danon who first wrote about the disease.

Danon Disease looked initially like another rare genetic condition called 'Pompe' disease. Under the microscope, muscles from the Danon Disease patients looked similar to muscles from Pompe disease patients. However the tests for Pompe disease are normal in Danon Disease patients. This shows that Danon Disease is caused by something different than Pompe disease.

Symptoms[edit]

Males

In males the symptoms of Danon Disease are more severe. Features of Danon Disease in males are:

An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence)
Some learning problems or mental retardation can be present
The muscle weakness can be severe and can affect endurance and even the ability to walk
The heart disease (cardiomyopathy) can be severe and can lead to a need for medications. It usually progress to heart failure, commonly complicated by atrial fibrillation and embolic strokes with severe neurological disability,^[5] leading to death unless heart transplant is performed.
Problems with the electrical conduction in the heart can occur. Sometimes the conduction problem is called Wolff-Parkinson-White syndrome.
The symptoms are usually progressive and the boys tend to gradually get worse
Some boys may have problems with their vision or a problem with the pigment in their retinas (in the back of their eyes)
Danon Disease is rare and unfamiliar to most physicians. It can be mistaken for other forms of heart disease and/or muscular dystrophies.

Females

In females the symptoms of Danon Disease are less severe. Common symptoms of Danon Disease in females are:

A later age of onset of symptoms. Many females will not have obvious symptoms until late adolescence or even adulthood.
Learning problems and mental retardation are usually ABSENT
Muscle weakness is often absent or subtle. Some females will tire easily with exercise
Heart muscle disease (cardiomyopathy) is often absent in girls: some women will develop this in adulthood. Cardiomyopathy can be associated with atrial fibrillation and embolic strokes.
Problems with the electrical conduction in the heart can occur. Sometimes the conduction problem is called 'Wolff-Parkinson-White' syndrome
Symptoms in females progress more slowly than in males. Heart disease may not be a problem for females until adulthood
Some females will have problems with their vision or a problem with the pigment in the back of their retinas (in the back of their eyes)
Danon Disease is rare and unfamiliar to most physicians. The milder and more subtle symptoms in females probably make it harder to diagnose females who have Danon Disease

Causes of Danon Disease[edit]

The cause of Danon Disease is known, but not well-understood. The genetic defect involves a gene called LAMP2. In persons with Danon Disease the LAMP2 gene is damaged (or 'mutated') and normal LAMP2 protein is no longer made. While we do not fully understand what the function of the LAMP2 gene is, we do know that LAMP2 protein is located in small structures in our cells called lysosomes

References[edit]

^ Maron BJ, Roberts WC, Arad M et al. (March 2009). "Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy". JAMA 301 (12): 1253–1259. doi:10.1001/jama.2009.371. PMID 19318653.
^ Lobrinus JA, Schorderet DF, Payot M, et al. (April 2005). "Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)". Neuromuscular disorders : NMD 15 (4): 293–8. doi:10.1016/j.nmd.2004.12.007. PMID 15792868.
^ Nishino I, Fu J, Tanji K, et al. (August 2000). "Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)". Nature 406 (6798): 906–10. doi:10.1038/35022604. PMID 10972294.
^ Danon MJ, Oh SJ, DiMauro S, et al. (January 1981). "Lysosomal glycogen storage disease with normal acid maltase". Neurology 31 (1): 51–7. PMID 6450334.
^ Spinazzi M, Fanin M, Melacini P, Nascimbeni AC, Angelini C. Cardioembolic stroke in Danon disease. Clin Genet. 2008;73:388-90.

http://danondisease.org

UpToDate Contents

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1. ライソゾーム膜蛋白質2欠損症（糖原病IIb型、ダノン病） lysosome associated membrane protein 2 deficiency glycogen storage disease iib danon disease
2. 肥大型心筋症の遺伝学 genetics of hypertrophic cardiomyopathy
3. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
4. 特殊な問題の治療を含む肥大型心筋症のマネージメントの概要 overview of hypertrophic cardiomyopathy management including treatment of special problems
5. Wolff-Parkinson-White症候群の疫学、臨床症状、および診断 epidemiology clinical manifestations and diagnosis of the wolff parkinson white syndrome

English Journal

Social encounter networks: collective properties and disease transmission.

Danon L, House TA, Read JM, Keeling MJ.SourceMathematics Institute, University of Warwick, Gibbet Hill Road, Coventry CV4 7AL, UK.
Journal of the Royal Society, Interface / the Royal Society.J R Soc Interface.2012 Nov 7;9(76):2826-33. Epub 2012 Jun 20.
A fundamental challenge of modern infectious disease epidemiology is to quantify the networks of social and physical contacts through which transmission can occur. Understanding the collective properties of these interactions is critical for both accurate prediction of the spread of infection and de
PMID 22718990

Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease.

Chen XL, Zhao Y, Ke HP, Liu WT, Du ZF, Zhang XN.SourceDepartment of Biochemistry and Genetics, National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.
Gene.Gene.2012 Oct 10;507(2):174-6. Epub 2012 Jun 30.
Danon disease is a rare X-linked lysosomal storage disease characterized by hypertrophic cardiomyopathy, myopathy and mental retardation, and is due to a primary defect in lysosome-associated membrane protein-2 (LAMP 2). More than 26 mutations in the LAMP2 gene have been described, including a small
PMID 22750798

Japanese Journal

Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy

Dougu Nobuhiro,Joho Shuji,Shan Lishen,Shida Takuya,Matsuki Akira,Uese Keiichiro,Hirono Keiichi,Ichida Fukiko,Tanaka Kortaro,Nishino Ichizo,Inoue Hiroshi
Circulation journal : official journal of the Japanese Circulation Society 73(2), 376-380, 2009-01-20
… Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associated membrane protein-2 (LAMP-2). …
NAID 110007042169