Clinicopathological features of genetically confirmed Danon disease

Academic Article

Abstract

  • Background: Danon disease is due to primary deficiency of lysosome-associated membrane protein-2. Objective: To define the clinicopathologic features of Danon disease. Methods: The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were reviewed. Results: All patients had cardiomyopathy, 18 of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy, and 14 of 20 male patients (70%) and one of 18 female patients (6%) had mental retardation. Men were affected before age 20 years whereas most affected women developed cardiomyopathy in adulthood. Muscle histology revealed basophilic vacuoles that contain acid phosphatase-positive material within membranes that lack lysosome-associated membrane protein-2. Heart transplantation is the most effective treatment for the otherwise lethal cardiomyopathy. Conclusions: Danon disease is an X-linked dominant multisystem disorder affecting predominantly cardiac and skeletal muscles.
  • Authors

    Published In

  • Neurology  Journal
  • Digital Object Identifier (doi)

    Author List

  • Sugie K; Yamamoto A; Murayama K; Oh SJ; Takahashi M; Mora M; Riggs JE; Colomer J; Iturriaga C; Meloni A
  • Start Page

  • 1773
  • End Page

  • 1778
  • Volume

  • 58
  • Issue

  • 12