Rott H D, Mulz D
Dtsch Med Wochenschr. 1982 Nov 5;107(44):1678-81. doi: 10.1055/s-2008-1070187.
For detection of carriers of Duchenne muscular dystrophy the calf musculature was investigated for increased fat and connective tissue content using ultrasound. The investigation was done blind in 24 females without prior information on family history and creatine kinase (CK-)values. In 5 out of 6 carriers and in 5 out of 7 controls the correct diagnosis was made. One carrier was assumed to be unaffected and in two controls findings were inconclusive. Out of 11 potential carriers with normal CK-values 4 were considered to be carriers. One borderline case could not be assigned clearly. For the present problem ultrasound diagnostics have been proven to be useful particularly in older females in whom enzyme assessment will not produce pathological data.
为了检测杜氏肌营养不良症的携带者，使用超声对小腿肌肉组织进行检查，以确定脂肪和结缔组织含量是否增加。对24名女性进行了盲法检查，事先未告知她们家族病史和肌酸激酶（CK-）值。在6名携带者中有5名以及7名对照中有5名被正确诊断。1名携带者被判定为未患病，2名对照的检查结果不确定。在11名CK值正常的潜在携带者中，有4名被认为是携带者。1例临界病例无法明确归类。对于当前的问题，超声诊断已被证明是有用的，特别是对于那些酶评估不会产生病理数据的老年女性。
