Lacomis D, Gonzales J T, Giuliani M J
Department of Neurology, University of Pittsburgh, PA 15213, USA.
Clin Neurol Neurosurg. 1999 Jun;101(2):133-6. doi: 10.1016/s0303-8467(99)00019-0.
Advances in molecular genetics are allowing better phenotype to genotype correlation of the non-dystrophic myotonic disorders. We report a 32-year-old woman, who first noted myotonia that was associated with weakness during her first pregnancy. The work-up disclosed that she had Thomsen's disease which is not known to be associated with weakness. In addition, her myotonia was of the fluctuating type and occurred (symptomatically) only during two pregnancies. We discuss the evaluation of myotonia in the pregnant woman which led to the diagnosis of Thomsen's disease and we conclude that in exceptional cases, fluctuating myotonia and weakness occurs in autosomal dominant chloride channel myotonia (Thomsen's disease).
分子遗传学的进展使得非营养不良性肌强直障碍的表型与基因型之间的相关性得到了更好的理解。我们报告了一名32岁女性，她在首次怀孕时首次注意到与肌无力相关的肌强直。检查发现她患有汤姆森病，该病通常不伴有肌无力。此外，她的肌强直呈波动型，仅在两次怀孕期间出现（有症状）。我们讨论了对该孕妇肌强直的评估，最终诊断为汤姆森病，并得出结论，在个别情况下，常染色体显性遗传性氯化物通道肌强直（汤姆森病）会出现波动型肌强直和肌无力。
