Eldridge R, Ince S E, Chernow B, Milstien S, Lake C R
Ann Neurol. 1984 Sep;16(3):356-8. doi: 10.1002/ana.410160313.
We examined 61-year-old identical twin women of Jewish extraction with a probable autosomal recessive form of torsion dystonia. The dystonia in each was relatively mild and discovered only because a young relative developed dystonia. The twins were said to be discordant for dystonia, but personal evaluation led to the diagnosis of dystonia in both. Their slow course, with prolonged spontaneous remission in one twin, is in contrast to that described in most published reports. Although similar in mode of onset and initial course, the twins were dissimilar in age at onset, influence of pregnancy, diurnal variation in symptoms, need for medication, later course, and degree of disability at age 61. Normal plasma levels of norepinephrine and dopamine-beta-hydroxylase are consistent with autosomal recessive hereditary torsion dystonia. The importance of personal evaluation of key family members in establishing the correct genetic basis for a heterogeneous group of disorders, such as the hereditary dystonias, is stressed.
我们研究了一对61岁的同卵双胞胎犹太裔女性，她们可能患有常染色体隐性遗传性扭转性肌张力障碍。两人的肌张力障碍都相对较轻，只是因为一位年轻亲属患了肌张力障碍才被发现。据说这对双胞胎在肌张力障碍方面不一致，但经过个人评估，两人均被诊断为肌张力障碍。她们病程缓慢，其中一人有长时间的自发缓解期，这与大多数已发表报告中描述的情况不同。尽管这对双胞胎在发病方式和初始病程上相似，但在发病年龄、妊娠的影响、症状的日变化、药物治疗需求、后期病程以及61岁时的残疾程度方面存在差异。去甲肾上腺素和多巴胺-β-羟化酶的血浆水平正常，这与常染色体隐性遗传性扭转性肌张力障碍相符。强调了对关键家庭成员进行个人评估对于为遗传性肌张力障碍等异质性疾病群体确定正确遗传基础的重要性。
