Ionasescu V, Christensen J, Hart M
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242.
Muscle Nerve. 1994 Aug;17(8):946-8. doi: 10.1002/mus.880170816.
A 42-year-old woman with negative family history had the insidious onset of weakness in her lower extremities 8 years before, in 1983. The disorder slowly progressed to include cramps and muscle twitches. The diagnosis of adult spinal muscular atrophy (SMA) was made when electromyography showed large rapidly firing motor unit-potentials, positive waves, and fibrillation potentials, and when muscle biopsy of the quadriceps revealed severe alterations consistent with neurogenic atrophy. The patient also had severe chronic constipation for many years. More recently she had developed unremitting diarrhea. Gastrointestinal studies showed no evidence of peristaltic contractions in the rectum, delayed gastric emptying, and abnormal jejunal manometry with altered propagation of the migrating myoelectrical complex.
一名42岁女性，家族史阴性，于1983年，即8年前隐匿起病，出现下肢无力。病情缓慢进展，逐渐出现肌肉痉挛和抽搐。肌电图显示运动单位电位快速大量发放、正锐波和纤颤电位，股四头肌肌肉活检显示与神经源性萎缩一致的严重改变，据此诊断为成人脊髓性肌萎缩（SMA）。该患者多年来还患有严重的慢性便秘。最近，她出现了持续性腹泻。胃肠道检查显示直肠无蠕动收缩迹象、胃排空延迟，空肠测压异常，移行性复合肌电传播改变。
