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NEUROLOGY 2005;65:1132-1134
© 2005 American Academy of Neurology
Brief Communications

A new congenital form of X-linked autophagic vacuolar myopathy

C. Yan, MD, M. Tanaka, PhD, K. Sugie, MD, PhD, T. Nobutoki, MD, M. Woo, MD, N. Murase, MD, PhD, Y. Higuchi, MD, PhD, S. Noguchi, PhD, I. Nonaka, MD, PhD, Y. K. Hayashi, MD, PhD and I. Nishino, MD, PhD

From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of Neurology (Dr. Yan), Qilu Hospital of Shandong University, Jinan, China.

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 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan; e-mail: nishino{at}ncnp.go.jp

In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal deposition of C5-9 membrane attack complex and calcium, histologically indistinguishable from childhood-onset X-linked myopathy with excessive autophagy (XMEA). Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations.

Supported partly by the Research on Health Sciences focusing on Drug Innovation and the Research on Psychiatric and Neurologic Diseases and Mental Health from the Japanese Health Sciences Foundation; partly by a Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science; and partly by a Research Grant (17A-10) for Nervous and Mental Disorders from the Ministry of Health, Labor and Welfare.

Disclosure: The authors report no conflicts of interest.

Received February 17, 2005. Accepted in final form June 20, 2005.






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