Martín P, Sierra J, Losada A, Rufo M, Lucas M
Servicio de Pediatria, Hospital Juan Ramón Jiménez, Huelva, España.
Rev Neurol. 1997 Jun;25(142):833-6.
Congenital myotonic dystrophy (CMD) is the neonatal form of Steinert's myotonia. However, the symptoms and neuro-physiological findings are different from the classical adult form, there is a high mortality and early diagnosis of the condition is difficult. CMD occurs as a result of abnormal expansion of CTG triplets on chromosome 19. There is dominant autosomal transmission of this multi-systemic disorder, although when it occurs in children, it is the mother who is always the affected parent. Molecular genetic techniques enable unequivocal diagnosis of the condition, evaluation of anticipation and the possibility of offering genetic counselling to the families involved.
先天性肌强直性营养不良（CMD）是斯坦纳特肌强直的新生儿形式。然而，其症状和神经生理学表现与经典的成人形式不同，死亡率高且该病早期诊断困难。CMD是由于19号染色体上CTG三联体异常扩增所致。这种多系统疾病呈常染色体显性遗传，不过当它发生在儿童身上时，患病的总是母亲。分子遗传学技术能够明确诊断该病，评估遗传早现现象，并为相关家庭提供遗传咨询。
