TIBIAL MUSCULAR-DYSTROPHY - LATE ADULT-ONSET DISTAL MYOPATHY IN 66 FINNISH PATIENTS
TIBIAL MUSCULAR-DYSTROPHY - LATE ADULT-ONSET DISTAL MYOPATHY IN 66 FINNISH PATIENTS
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DOI：
10.1001/archneur.1993.00540060044015
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发表时间：
1993-06-01
影响因子：
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通讯作者：
SOMER, H
中科院分区：
文献类型：
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作者：
UDD, B;PARTANEN, J;SOMER, H
目标。目的：明确先前报道的两组胫骨前远端营养不良患者的分类，寻找更多的患者，并描述这种疾病的临床特征。-芬兰全国神经肌肉疾病患者记录调查。将所选患者的结果与先前报道的病例进行比较。- 36例先前描述的患者和30例来自当前调查的额外患者，其中41例有症状患者和25例主观上无症状的受影响亲属。- 66例成人晚发性胫骨肌营养不良。症状出现在35岁以后，踝关节背屈减少，进展缓慢，无明显残疾。面部肌肉、上肢和近端肌肉通常不受影响。肌肉活检结果显示临床上受影响的肌肉发生非特异性营养不良改变，胫前肌经常发生严重的脂肪置换。无症状的肌肉只有轻微的肌病改变。在少数患者中发现空泡变性。肌电图显示胫前肌有严重的肌病改变，但短伸肌保存完好。肌肉的计算机断层扫描或磁共振成像显示明显累及胫骨伸肌和各种无症状肌肉的局灶性脂肪变性斑块。家谱资料提示常染色体显性遗传。胫骨肌萎缩症可能代表一种新形式的远端肌病，它是相当常见的，至少在芬兰。
Objective.-To clarify the classification of two previously reported groups of patients with anterior tibial distal dystrophy, to find additional patients with the disease, and to describe the clinical features of this disease.Design.-National survey of the records of patients with neuromuscular diseases in Finland. Findings of selected patients were compared with those of previously reported cases.Patients.-Thirty-six previously described patients and 30 additional patients from the current survey, with 41 symptomatic patients and 25 subjectively asymptomatic affected relatives.Results.-There were 66 patients with late adult-onset tibial muscular dystrophy. Symptoms appear after the age of 35 years with reduced ankle dorsiflexion, and progress is slow without marked disability. Facial muscles, upper extremities, and proximal muscles are usually spared. Muscle biopsy results reveal nonspecific dystrophic changes in clinically affected muscles, and frequently severe adipose replacement in the anterior tibial muscles occurs. Asymptomatic muscles have mild myopathic changes only. Vacuolar degeneration is detected in a minority of patients. Electromyography shows profound myopathic changes in the anterior tibial muscle, but extensor brevis muscles are well preserved. Computed tomography or magnetic resonance imaging of muscles discloses marked involvement of tibial extensor muscles and focal patches of fatty degeneration in various asymptomatic muscles. Pedigree data suggest autosomal dominant inheritance.Conclusions.-Tibial muscular dystrophy might represent a new form of distal myopathy and it is rather common, at least in Finland.