Rimmed, vacuolar distal myopathy in two Taiwanese siblings.

Y. R. Wu, S. T. Chen, L. S. So, C. J. Chen

研究成果: 雜誌貢獻文章同行評審

摘要

Distal myopathy with rimmed vacuoles (DMRV) is a rare disease that has not previously been reported in Taiwan. This paper reports two siblings with DMRV. Each showed a different pattern of disease progression, one being slowly and the other rapidly progressive. Both patients' initial symptoms appeared in early adulthood, manifesting as muscular wasting and weakness of the legs, especially in the distal muscles. Severe generalized involvement of skeletal muscles, with sparing of the facial, extraocular, bulbar, intercostal and diaphragm muscles was recognized in the advanced stage. The striking finding in their muscle biopsy specimens was the presence of "rimmed" vacuoles. Magnetic resonance imaging showed more severe involvement of the anterior compartment muscles of the lower legs. DMRV is thought to be inherited as an autosomal recessive trait and is distinguishable from other types of distal myopathy on the basis of clinical and pathologic findings. The literature on the subject is reviewed with emphasis on the differences between distal myopathic syndromes.

原文英語
頁(從 - 到)750-753
頁數4
期刊Journal of the Formosan Medical Association = Taiwan yi zhi
94
發行號12
出版狀態已發佈 - 十二月 1995
對外發佈

ASJC Scopus subject areas

  • 醫藥 (全部)

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