Schuitevoerder K, Ansved T, Solders G, Borg K
Department of Neurology, Karolinska Hospital, Stockholm, Sweden.
Acta Neurol Scand. 1997 Oct;96(4):266-70.
Three Swedish patients with proximal muscle weakness, myotonia and lack of CTG expansion on genetical analysis are presented. Clinical neurological and neurophysiological examination and muscle biopsy were performed. There was an indication of autosomal dominant inheritance in 2 of the 3 patients. The main symptoms and clinical findings in the 3 patients were weakness of the proximal muscles, myotonia, muscle stiffness, muscle pain and muscle atrophy. Neurophysiological examination showed myotonic bursts and muscle biopsy showed a variation of fibre sizes, an increased number of muscle fibres with centralized nuclei and scattered atrophic muscle fibres. Laboratory data showed elevated CK, GT and LD in 1 patient. Before genetical analysis was performed, all 3 patients had been diagnosed as atypical cases of myotonic dystrophy. However, the symptoms, clinical signs, laboratory data, electrophysiological and muscle biopsy findings were compatible with proximal myotonic myopathy (PROMM).
本文介绍了3例瑞典患者，这些患者有近端肌无力、肌强直，基因分析未发现CTG扩增。对其进行了临床神经学和神经生理学检查以及肌肉活检。3例患者中有2例显示为常染色体显性遗传迹象。这3例患者的主要症状和临床发现为近端肌无力、肌强直、肌肉僵硬、肌肉疼痛和肌肉萎缩。神经生理学检查显示有肌强直放电，肌肉活检显示肌纤维大小不一、有核中央化的肌纤维数量增加以及散在的萎缩性肌纤维。实验室数据显示1例患者的肌酸激酶（CK）、谷草转氨酶（GT）和乳酸脱氢酶（LD）升高。在进行基因分析之前，所有3例患者均被诊断为强直性肌营养不良的非典型病例。然而，其症状、临床体征、实验室数据、电生理和肌肉活检结果均与近端型强直性肌病（PROMM）相符。
