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Brain, Vol. 112, No. 1, 65-83, 1989
© 1989 Oxford University Press

research-article

DISTAL MYOPATHY WITH RIMMED VACUOLE FORMATION

A FOLLOW-UP STUDY

NOBUHIKO SUNOHARA, IKUYA NONAKA, NOBUYUKU KAMEI and EIJIRO SATOYOSHI

Department of Neurology, National Center of Neurology and Psychiatry, Ogawa-Higashi-Machi Kodaira, Tokyo, Japan

Correspondence to: Correspondence to: Dr N. Sunohara, National Center for Neurology and Psychiatry, 4-1-1 Ogawa-Higashi Machi, Kodaira, Tokyo 187, Japan

A long-term follow-up study of patients with familial distal myopathy with rimmed vacuole formation and a review of the literature indicates that the prognosis of the disorder was extremely poor as to daily life. Although the initial symptom appearing in early adulthood was muscular wasting and weakness in the legs, especially the distal muscles, severe generalized skeletal muscle involvement with sparing of the facial, extraocular, bulbar, intercostal and diaphragm muscles was recognized in the advanced stage The disease is probably inherited as an autosomal recessive trait, While there is a considerable female preponderance, the female-to-male ratio being 2 1 The disorder is distinguishable from various types of distal myopathy on the basis of clinical and pathological findings, and other myopathies with rimmed vacuole formation, including inclusion body myositis, from a prognostic viewpoint

Received July 7, 1987. Revised February 17, 1988. Accepted March 11, 1988.


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