Service de neurologie, hôpital Pitié-Salpêtrière, AP-HP, Paris cedex 13, France.
Rev Neurol (Paris). 2010 May;166(5):538-41. doi: 10.1016/j.neurol.2009.12.004. Epub 2010 Jan 25.
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by expanded CTG repeats within the 3' untranslated region of the dystrophia myotonia protein kinase (DMPK) gene on chromosome 19. Diplopia is rare in this disease and has only been reported in patients with diffuse neuromuscular disorders.
We report here on the case of a 58-year-old woman in whom ophthalmoplegia was the first neuromuscular manifestation of DM1 and led to the diagnosis. Among the multisystem abnormalities associated with DM1, muscle-related symptoms are prominent, and usually involve the facial and neck muscles early on in the disease. This case provides additional evidence of oculomotor muscle involvement in DM1.
DM1 should, therefore, be considered during the diagnostic workup of any unexplained ophthalmoplegia of muscle origin, especially if there has been a previous history of cataract, even in the absence of typical muscle-related features.
肌强直性营养不良 1 型（DM1）是一种遗传性疾病，由位于 19 号染色体肌营养不良蛋白激酶（DMPK）基因 3'非翻译区的 CTG 重复扩展引起。斜视在这种疾病中很少见，仅在弥漫性神经肌肉疾病患者中报告过。
我们在此报告一例 58 岁女性，其眼肌麻痹是 DM1 的首例神经肌肉表现，并导致了诊断。在与 DM1 相关的多系统异常中，肌肉相关症状较为突出，通常在疾病早期累及面部和颈部肌肉。该病例为 DM1 中的眼动肌肉受累提供了更多证据。
因此，在对任何原因不明的肌肉性眼肌麻痹进行诊断性检查时，应考虑到 DM1，尤其是在存在先前白内障史的情况下，即使没有典型的肌肉相关特征。
