Hund E, Jansen O, Koch M C, Ricker K, Fogel W, Niedermaier N, Otto M, Kuhn E, Meinck H M
Department of Neurology, University of Heidelberg, Germany.
Neurology. 1997 Jan;48(1):33-7. doi: 10.1212/wnl.48.1.33.
Proximal myotonic myopathy (PROMM) is an autosomal dominantly inherited multisystemic disorder characterized by myotonia, proximal muscle weakness, and cataracts. This disorder is not linked to the gene locus of myotonic dystrophy (DM). We describe three new families with PROMM. In all patients, CTG repeats of the DM gene in DNA from blood leukocytes were normal. MRI of the brain revealed a consistent pattern of marked white matter hyperintensity on T2-weighted images in four patients; two additional patients had similar but mild to moderate MRI abnormalities. The morphology of these abnormalities is unknown. Clinical symptoms of brain disease were not consistent and included mental changes with hypersomnia, parkinsonian features, stroke-like episodes, and seizures. The causative relationship of these clinical features with the MRI white matter abnormalities remains to be established. Our observations suggest that PROMM may involve the brain.
近端肌强直性肌病（PROMM）是一种常染色体显性遗传的多系统疾病，其特征为肌强直、近端肌无力和白内障。该疾病与强直性肌营养不良（DM）的基因位点无关。我们描述了三个患有PROMM的新家族。在所有患者中，血液白细胞DNA中DM基因的CTG重复序列均正常。四名患者的脑部MRI在T2加权图像上显示出一致的显著白质高信号模式；另外两名患者有类似但轻度至中度的MRI异常。这些异常的形态尚不清楚。脑部疾病的临床症状并不一致，包括伴有嗜睡的精神变化、帕金森样特征、类中风发作和癫痫发作。这些临床特征与MRI白质异常之间的因果关系仍有待确定。我们的观察结果表明，PROMM可能累及大脑。
