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From the Departments of Ultrastructural Research (Drs. Sugie, Yamamoto, Nonaka, and Nishino, and K. Murayama) and Neuromuscular Research (Dr. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; the Department of Neurology (Dr. Sugie), Nara Medical University, Kashihara, Nara, Japan; the Department of Neurology (Dr. Oh), University of Alabama at Birmingham; the Department of Pediatrics (Drs. Takahashi and Saitoh), Hokkaido University, Sapporo, Hokkaido, Japan; the Department of Neuromuscular Diseases (Dr. Mora), National Neurological Institute "C. Besta," Milan, Italy; the Department of Neurology (Dr. Riggs), West Virginia University, Morgantown; Hospital Sant Joan de Déu (Drs. Colomer and Iturriaga), Barcelona, Spain; the Department of Pediatrics (Dr. Meloni), University of Cagliari, Italy; the Department of Clinical Neurosciences (Dr. Byrne), St. Vincent’s Hospital, Fitzroy, Australia; and the Department of Neurology (Drs. Lamperti, DiMauro, and Hirano), Columbia University, New York, NY.
Address correspondence and reprint requests to Dr. Ichizo Nishino, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan; e-mail: nishino{at}ncnp.go.jp
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.
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