Radioimmunoassay of serum myoglobin in neuromuscular diseases.

Radioimmunoassay of serum myoglobin was performed in 85 patients with muscular symptoms. Elevated levels were found in 93% of patients with myogenic myopathy, in 54% with myasthenia gravis and in 50% with neurogenic myopathy. All 11 patients with polymyositis had elevated myoglobin concentrations. In six of seven patients with polymyositis, who were followed up with repeated determinations, a clear relationship between myoglobin levels and clinical course was found. In general serum myoglobin seemed to be a more sensitive indicator of muscle disease than creatine kinase.     

Effect of hemodialysis on the creatine kinase activity in inflammatory muscular diseases

In 10 patients with polymyositis at different stages of the intensity of clinical changes the effect of serum dialysis on CPK activity was studied. The controlgroup comprised 5 patients with Duchenne type myopathy and 11 healthy subjects. In 80% of patients with polymyositis a fall in CPK activity was observed after dialysis, similarly as in all patients with Duchenne type dystrophy and in healthy subjects. In the ramaining patients with polymyositis a significant rise in CPK activity occurred after dialysis. These patients were in the acute stage of the disease and had not yet been treated.     

Autonomic neuropathy and coeliac disease

Coeliac disease is associated with numerous neurological manifestations including cerebellar ataxia, myelopathy, myopathy, and peripheral neuropathy. This report describes four patients who presented subacutely with presyncope and postural nausea. All four patients had biopsy proven coeliac disease with dysautonomia present on autonomic evaluation. These four patients comprised 2.4% of patients referred for autonomic testing in one year. Thus the frequency of coeliac disease is similar to that reported in idiopathic peripheral neuropathy.     

Vascular innervation in human skeletal muscle with and without neuromuscular disease

Summary A quantitative ultrastructural study has been made of the innervation of 461 arterioles in 114 skeletal muscle biopsies of patients with or without neuromuscular disease excluding diabetes and autonomic neuropathy. In 18 controls the number of nerves and Schwann cells around each vessel was related to the size of the vessel, whether the vessel was within a muscle fascicle or between muscle fascicles. The innervation of arterioles increased with increased diastolic blood pressure. There was no statistically significant change in innervation with increased systolic blood pressure or with age, from 4 to 85 years. In 96 cases of neuromuscular disease and especially in motor neurone disease, axonal varicosities in cross section tended to be larger, more often contained no vesicles or only a few and had altered satellite cell cover depending on the location of the arteriole. Whilst the numerical density of Schwann cells did not change with disease, fewer varicosities were identified within Schwann cells in motor neurone disease, metabolic myopathy and neuropathy and myopathy due to toxins or vascular disease. Preterminal axons in nerve fascicles adjacent to arterioles were lost in polymyositis and muscle disease due to toxins or vascular disease. In polymyositis, metabolic myopathy and motor neurone disease there was some evidence of compensatory nerve sprouting, either in the nerve fascicles or in the adventitia of the arterioles. These structural changes may be related to the changes in blood flow or vascular reactivity described by others in motor neurone disease, polymyositis and metabolic myopathy. It is concluded that the ultrastructure of the vascular innervation of human skeletal muscle is similar to that in other mammals [12, 19] and is changed more with increased diastolic blood pressure and neuromuscular disease than with age.     

Asymptomatic hyper-CK-emia: an electrophysiologic and histopathologic study

Since the popularization of routine creatine kinase (CK) measurement, an increasing number of patients with unexplained CK elevation ("asymptomatic hyper-CK-emia") are being identified. We studied 19 patients with persistent CK elevation of unknown etiology with electromyography (EMG) and muscle biopsy. Needle EMG was abnormal in 14 patients. Muscle biopsy was positive in all individuals with abnormal EMG and in one patient with normal EMG. Diagnoses included polymyositis in five patients, morphologically nonspecific myopathy in three, mitochondrial myopathy in two, and sarcoid myopathy, central core disease, multicore disease, inclusion body myopathy, and McArdle's disease in one case, respectively. Five patients with abnormal biopsies developed weakness within 1 year of presentation. We conclude that persistent asymptomatic CK elevation represents mild or early myopathy in a majority of cases.     

Neuromuscular and sensory disturbances in patients with well treated coeliac disease

OBJECTIVES: A body of evidence shows that coeliac disease is associated with protean manifestations outside the intestine, and neurological disorders are well recognised. However, it remains obscure whether there are signs of clinical or subclinical nervous system involvement even in patients adopting an adequate gluten free diet. The aim of this study was to assess in a controlled study whether patients with treated coeliac disease carry an increased risk for neuropathy and characterise the type of possible neuropathy. METHODS: Electroneuromyographic findings and vibration, thermal, and tactile thresholds of 26 patients with coeliac disease and 23 patients with reflux disease were analysed. RESULTS: Six (23.1 %) coeliac disease patients and one (4.3 %) reflux disease patient showed findings of chronic axonal neuropathy in quantitative needle EMG. In addition, two coeliac disease patients showed findings suggestive for myopathy. There were no significant differences in warm, cold, or vibration thresholds between the groups but means of heat pain thresholds and tactile thresholds were significantly higher in coeliac patients than in controls. CONCLUSION: An increased occurrence of axonal neuropathy was observed in well treated coeliac disease. This further indicates that neurological manifestations occur even in patients without overt malabsorption.     

Skeletal muscle involvement in HIV-infected patients

Skeletal muscle involvement may occur at all stages of human immunodeficiency virus (HlV)-infecuon, and represents the first manifestation of the disease in some patients. There have been many controversies about the classification of myopathies related to HIV infection. We usually classify muscle involvement in HIV–infected patients in one of the following categories: (1) HIV–associated myopathy, a myopathy that meets the criteria for polymyositis in a majority of patients, and those for acquired nemaline myopathy in some; (2) zidovudine myopathy, a reversible mitochondrial myopathy; (3) the HIV–wasting syndrome and other AIDS–associated cachexias; (4) opportunistic infections and tumoral infiltrations of skeletal muscle; (5) vasculitic processes and iron pigment deposits. Immunohistology for major histocompatibility complex class I antigen and the histochemical reaction for cytochrome C oxidase are helpful in correctly classifying a myopathy as HIV polymyositis or zidovudine myopathy respectively. Studies of circulating levels and tissue expression of cytokines in HIV–infected patients have yielded new insights into the pathogenesis of the various AIDS–associated muscle disorders.     

坏死性肌病9例临床与病理分析

目的探讨坏死性肌病的临床和病理特点及其对药物的治疗反应.方法采用回顾性研究方法.结果患者的临床表现同多发性肌炎(PM),肌肉活检显示肌纤维变性、坏死,部分有吞噬现象,但无炎性细胞浸润;患者对激素联合免疫抑制剂治疗有效;年龄较大、病程较长、用药较晚者治疗效果差.结论坏死性肌病可能为PM的特殊类型,患者对激素合并使用免疫抑制剂有效.     

McArdle's disease resembling an inflammatory myopathy

Previous reports have shown that McArdle's disease may occasionally present in older patients (i.e. greater than 40 years of age) as a progressive myopathy that is clinically and sometimes electrophysiologically indistinguishable from idiopathic polymyositis. We report two such patients who in addition had muscle biopsies showing inflammatory infiltrates compatible with polymyositis. However, subsequent enzyme histochemistry demonstrated complete myophosphorylase deficiency and, in the absence of an alternative explanation, may be the reason for the inflammatory changes seen. These cases highlight the importance of a thorough evaluation of patients with an 'inflammatory myopathy' and the occasional diagnostic confusion that may arise in differentiating metabolic myopathies from idiopathic polymyositis. Diagnostic clarification is important to avoid the use of incorrect and potentially toxic treatment.     

误诊为多发性肌炎的脂质沉积性肌病——附3例报告

目的探讨脂质沉积性肌病(lipid storage myopathy,LSM)的临床特征、病理改变、代谢异常及治疗。方法回顾性分析我院确诊的3例LSM患者的临床表现、肌肉病理所见及血、尿代谢检查结果 ,结合文献报道总结LSM的临床特点和发病机制,并对多发性肌炎的诊断标准进行讨论。结果 3例患者均有对称性肌无力和/或肌痛,肌酶谱增高,最初均诊断为多发性肌炎,经激素治疗可好转,但病情反复。肌肉病理显示肌纤维大小不等,大量肌纤维内可见类圆形空泡,油红O染色见肌纤维内大量红染的脂滴沉积。经调整饮食、口服维生素B2、左卡尼汀等药物治疗后,症状改善明显。结论应用Bohan/Peter标准可能导致对多发性肌炎的过度诊断。对临床表现为肌无力、肌痛的患者,不要盲目应用激素治疗,应积极进行骨骼肌活检,明确诊断。