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Journal Article
Research Support, Non-U.S. Gov't
Review
Clinicopathological features of genetically confirmed Danon disease.
Neurology 2002 June 26
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.
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.
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