An unusual case with myotonia

作者：Da, Yu-Wei^*; Wang, Min; Li, Yun; Lu, Yan; Jia, Jian-Ping

来源：The Kaohsiung Journal of Medical Sciences, 2013, 29(3): 172-175.

DOI：10.1016/j.kjms.2012.08.029

• Gene
• Myotonia
• Myotonic dystrophy
• Muscleblind protein
• Ring fibers

We report an unusual case involving a patient with myotonia. A 57-year-old man had multisystemic symptoms including skeletal muscle weakness, atrophy and percussion myotonia, cataract, heart involved, gastrointestinal tract symptoms, and urinary incontinence. The electromyography revealed myotonic discharges. Muscle biopsy showed myopathic features and a striking number of ring fibers. It was genetically proven that the case was not myotonic dystrophy type 1 (DM1) or 2 (DM2). The case might be DM3 or an unusual case of unclassified myopathy with multisystemic damage.

• 出版日期2013-3
• 单位首都医科大学