Murata K, Matsumura R, Murata K, Takayanagi T
Department of Neurology, Nara Medical University.
Rinsho Shinkeigaku. 1997 Jun;37(6):497-9.
We report a case of dystrophia myotonica (DM) in a 38-year-old man with homozygous DM kinase abnormality. His distal muscle strength was reduced moderately; muscle biopsy showed type 1 predominance and type 1 fiber atrophy. The patient's WAIS total IQ score was under 60. Since his childhood, his cognitive deficit has been more severe than his muscle weakness. MRI demonstrated many abnormal changes in the brain of this patient, but these changes were mild in comparison to the severity of his reduced cognition and low IQ. The relationship between mental dysfunction and DM kinase abnormalities is quite different from that seen in cases of heterozygous DM kinase abnormalities. This case demonstrated severe mental changes in spite of mild DM kinase abnormalities. We suspect the homozygous DM kinase abnormality to be a cause of the different clinical presentations of this patient.
我们报告一例38岁男性的强直性肌营养不良症（DM），其存在纯合子DM激酶异常。他的远端肌肉力量中度降低；肌肉活检显示1型纤维占优势且1型纤维萎缩。该患者韦氏成人智力量表（WAIS）的总智商得分低于60。自童年起，他的认知缺陷就比肌肉无力更为严重。磁共振成像（MRI）显示该患者脑部有许多异常变化，但与他认知能力下降和低智商的严重程度相比，这些变化较为轻微。精神功能障碍与DM激酶异常之间的关系与杂合子DM激酶异常病例所见不同。尽管DM激酶异常轻微，但该病例仍表现出严重的精神变化。我们怀疑纯合子DM激酶异常是该患者出现不同临床表现的原因。
