Cognazzo A, Grasso E, Gerbino Promis P C
Riv Patol Nerv Ment. 1979 Jul-Aug;100(4):209-19.
The nosographic relationship between Thomsen's and Steinert's disease is still uncertain. There is not agreement in the literature whether these are two different diseases or just different stages in the evolution of a single one. Four members of a family in two generations have been studied: two have a typical Steinert's, one a Thomsen's disease and one a clinical pattern that cannot be clearly considered neither of the first nor of the second type. In this patient a generalized muscular hypertrophy was followed, at the age of 54, by a generalized impairment of the muscular trophism and evolved into a severe wasting. This may be interpreted as an evolution of Thomsen's into a Steinert's disease. Furthermore, the presence in the same family of cases of both Thomsen's and Steinert's disease supports the hypothesis of a single disease. The present study suggests that Thomsen's and Steinert's diseases could be two clinical varieties of a single disease in different stages of development. This conclusion is supported by the similarity in the electromyographic patterns and in the histological picture from muscle biopsy of all patients examined.
托姆森病与斯坦纳特病之间的疾病分类关系仍不明确。文献中对于它们是两种不同的疾病，还是仅仅是单一疾病演变过程中的不同阶段，尚无定论。对一个家族两代中的四名成员进行了研究：两名患有典型的斯坦纳特病，一名患有托姆森病，还有一名的临床症状既不能明确归为前者也不能归为后者。该患者在54岁时，先是出现全身性肌肉肥大，随后出现全身性肌肉营养障碍，并发展为严重消瘦。这可以解释为托姆森病演变成了斯坦纳特病。此外，同一家庭中同时存在托姆森病和斯坦纳特病的病例，支持了单一疾病的假说。本研究表明，托姆森病和斯坦纳特病可能是单一疾病在不同发展阶段的两种临床类型。所有接受检查患者的肌电图模式以及肌肉活检的组织学图像的相似性支持了这一结论。
