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Neurology. 2002 Jun 25;58(12):1773-8.

Clinicopathological features of genetically confirmed Danon disease.

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  • 1Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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.

PMID:
12084876
[PubMed - indexed for MEDLINE]
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