Kuhn E, Fiehn W, Schröder J M, Assmus H, Wagner A
Neurology. 1979 Aug;29(8):1144-9. doi: 10.1212/wnl.29.8.1144.
We present a clinical and morphological study concerning a kindred with slowly progressive X-linked muscular dystrophy (Becker type). Five males were affected; one died of heart failure at age 16. Severe and early cardiac disorder is unusual in this type of muscular dystrophy, and death at such an early age had not been reported previously. In the other patients of the kindred, cardiac abnormalities, if present at all, were nonspecific. Another unusual feature in this kindred was severe muscle pain at an early stage of the disease, a feature that cannot yet be explained.
我们呈现了一项关于一个患有缓慢进展性X连锁肌营养不良(贝克型)家族的临床和形态学研究。五名男性受影响;其中一名在16岁时死于心力衰竭。严重且早期出现心脏疾病在这种类型的肌营养不良中并不常见,而且此前尚未有在如此早的年龄死亡的报道。在该家族的其他患者中,即便存在心脏异常,也不具有特异性。这个家族的另一个不寻常特征是在疾病早期出现严重的肌肉疼痛,这一特征目前尚无法解释。