Webb D, Mathews A, Harris M, Muir I, Hostetter J, Marshall W, Salimonu L, Gray J, Faulkner J, Johnson G
Can Med Assoc J. 1978 Mar 4;118(5):497-500, 552.
A large family with myotonia dystrophica has been recognized in an isolated area of Labrador. The complete family tree showed 29 of 108 members to be affected, including an infant with the congenital form of the disease. The propositus presented with epiphora and reduced frequency of blinking, with incomplete closure--features that have not previously been stressed. Ten of the younger affected persons had no lens opacities, although most had systemic muscle signs. Slit-lamp examination was therefore not a valuable method of early detection of the disease in the family. Many of the women affected by myotonia dystrophica had obstetric complications, particularly hydramnios, premature onset of labour, necessity for cesarean section, postpartum hemorrhage and neonatal death. Hydramnios was associated in each instances with perinatal death. The fetus in each case of hydramnios may have had the gene for myotonia dystrophica. Immunoglobulin A concentrations were reduced significantly in 27 affected persons in comparison with 77 unaffected family members. There were no such differences for the other immunoglobulin classes.
在拉布拉多一个与世隔绝的地区发现了一个患有营养不良性肌强直的大家族。完整的家族谱系显示，108名成员中有29人患病，其中包括一名患有先天性疾病的婴儿。先证者表现为流泪和眨眼频率降低，睑裂闭合不全——这些特征此前未受到重视。10名较年轻的患病者没有晶状体混浊，尽管大多数人有全身性肌肉体征。因此，裂隙灯检查并非该家族中早期发现该病的有效方法。许多患营养不良性肌强直的女性有产科并发症，尤其是羊水过多、早产、剖宫产需求、产后出血和新生儿死亡。每次羊水过多都与围产期死亡有关。每例羊水过多病例中的胎儿可能都携带营养不良性肌强直基因。与77名未患病的家庭成员相比，27名患病者的免疫球蛋白A浓度显著降低。其他免疫球蛋白类别则无此差异。
