Linssen W H, Notermans N C, Van der Graaf Y, Wokke J H, Van Doorn P A, Höweler C J, Busch H F, De Jager A E, De Visser M
Department of Neurology, St Lucas Andreas Hospital, Amsterdam, The Netherlands.
Brain. 1997 Nov;120 ( Pt 11):1989-96. doi: 10.1093/brain/120.11.1989.
Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings. Our study shows that Miyoshi myopathy is a heterogeneous, slowly progressive disorder. The disease starts with weakness and atrophy of the calves and progressively involves the proximal leg and hip muscles and, in a later stage the shoulder and upper arm muscles. After 10 years disease duration, one-third of the patients are dependent on wheelchairs for out-of-door transportation. Disease progression is related to disease duration and not to early age of onset of symptoms. Onset may be at any age and is asymmetrical in roughly half of the cases. Four cases had been initially diagnosed as idiopathic hyper-CK-aemia.
现已发现，三泽型远端肌营养不良在日本以外地区比之前认为的更为常见。我们研究了24例荷兰三泽型远端肌营养不良患者，重点关注其临床表现、自然病史、肌肉CT扫描及肌肉活检结果。我们的研究表明，三泽肌病是一种异质性、进展缓慢的疾病。该病始于小腿无力和萎缩，逐渐累及大腿近端和臀部肌肉，后期累及肩部和上臂肌肉。病程10年后，三分之一的患者出门需要轮椅代步。疾病进展与病程有关，与症状出现的早期年龄无关。发病可在任何年龄，约半数病例为不对称性发病。4例最初被诊断为特发性高肌酸激酶血症。
