Danon disease

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Danon disease
Classification and external resources
ICD-10E74.0
OMIM300257
MeSHD052120
 
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Danon disease
Classification and external resources
ICD-10E74.0
OMIM300257
MeSHD052120

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:

Females

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

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]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ Danon MJ, Oh SJ, DiMauro S, et al. (January 1981). "Lysosomal glycogen storage disease with normal acid maltase". Neurology 31 (1): 51–7. doi:10.1212/wnl.31.1.51. PMID 6450334. 
  5. ^ Spinazzi M, Fanin M, Melacini P, Nascimbeni AC, Angelini C. Cardioembolic stroke in Danon disease. Clin Genet. 2008;73:388-90.

http://danondisease.org