Danon Disease -CEW

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======Danon Disease ======
====Main Features====
  * Hypertropic Cardiomyopathy
  * Skeletal myopathy
  * Intellectual disability
====Eye Findings====
  * Pigmentary Retinopathy (20%)
    * Cone-Rod Dystrophy
====Other Findings====
  * Cardiac conduction abnormalities 
    * Wolff-Parkinson-White syndrome
    * other arrhythmias
  * Heart failure
====Etiology====
  * LAMP2 gene mutations- X-linked
    * encodes the lysosome-associated membrane protein-2
    * Males present earlier and have a more severe course often requiring heart transplant by the 3rd decade of life
  * Histopathology
    * autophagic vaculoes showing disrupted autophage
====Resources====
  * [[https://pubmed.ncbi.nlm.nih.gov/37821174 |International Consensus on Differential Diagnosis and Management of Patients With Danon Disease]]
  * [[https://pubmed.ncbi.nlm.nih.gov/16751040/ |Ophthalmic Manifestations of Danon Disease ]]
  * [[https://www.ncbi.nlm.nih.gov/books/NBK554742/ |Gene Reviews]]

{{tag>syndrome}}

syndrome