Reed S M, Hegreberg G A, Bayly W M, Brown C M, Paradis M R, Clemmons R M
Department of Veterinary Clinical Medicine, College of Veterinary Medicine, Washington State University, Pullman.
Muscle Nerve. 1988 Apr;11(4):291-6. doi: 10.1002/mus.880110403.
A severe and progressive neuromuscular disorder accompanied by clinical, electrophysiological, and pathological features resembling human dystrophia myotonica was observed in three foals. This disorder was apparent as early as 1 month of age and involved progressive skeletal muscle dysfunction, initially characterized by proximal muscle hypertrophy and hypertonicity with subsequent muscle stiffness, weakness, and atrophy. Multisystem involvement was manifested in one case by testicular hypoplasia, early cataract formation, and borderline glucose intolerance. Prolonged dimpling of these large rear-limb muscles was elicited by percussion. Myotonic discharges were identified by electromyography. Percussion dimpling and the typical myotonic discharges persisted after neuromuscular blockade. Distinctive histologic muscle changes included ring fibers, sarcoplasmic mass formation, variation in fiber diameter size, and internally positioned nuclei.
在3匹小马驹中观察到一种严重且进行性的神经肌肉疾病，伴有类似于人类强直性肌营养不良症的临床、电生理和病理特征。这种疾病早在1月龄时就很明显，涉及进行性骨骼肌功能障碍，最初表现为近端肌肉肥大和张力亢进，随后出现肌肉僵硬、无力和萎缩。在1例中，多系统受累表现为睾丸发育不全、早期白内障形成和临界性糖耐量异常。叩击这些大的后肢肌肉会引起长时间的肌丘。通过肌电图鉴定出强直放电。在神经肌肉阻滞之后，叩击肌丘和典型的强直放电仍然存在。独特的组织学肌肉变化包括环状纤维、肌浆块形成、纤维直径大小变化以及核内移。
