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Neurology 2003;61:128-131
© 2003 American Academy of Neurology
Brief Communications

A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement

D. Kaneda, MD, K. Sugie, MD PhD, A. Yamamoto, MD PhD, H. Matsumoto, MD, T. Kato, MD PhD, I. Nonaka, MD PhD and I. Nishino, MD PhD

From the Department of Neurology (Drs. Kaneda and Kato), Osaka Red Cross Hospital; and Department of Neuromuscular Research (Drs. Sugie, Yamamoto, Matsumoto, and Nishino), National Institute of Neuroscience, and National Center Hospital for Mental, Nervous, and Muscular Disorders (Dr. Nonaka), National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.

Address correspondence and reprint requests to Dr. Ichizo Nishino, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8502 Japan; e-mail: nishino{at}ncnp.go.jp

The authors report a 41-year-old man with a novel form of adult-onset autophagic vacuolar myopathy (AVM) with multiple organ involvement including eyes, heart, liver, lung, kidney, and skeletal muscle. The vacuolar membranes had sarcolemmal features similar to vacuoles in Danon disease, X-linked myopathy with excessive autophagy, and infantile AVM. Lysosome associated membrane protein-2, absent in Danon disease, was present. Defined by distinct clinical features, this disease constitutes the fourth entity in the group of autophagic vacuolar myopathy in which the vacuolar membranes have features of sarcolemma.




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