Saito Kayoko
Institute of Medical Genetics, Tokyo Women's Medical University, 10-22 Kawadacho, Shinjuku, Tokyo 162-0054, Japan.
Prenat Diagn. 2006 May;26(5):415-7. doi: 10.1002/pd.1426.
Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. FCMD is recognized as an autosomal recessive genetic defect. Genetic counselling is recommended for parents at risk of having a child with FCMD. Given the high risk and overwhelming prospect of having another child with this incurable devastating condition leads many couples to consider prenatal diagnosis. In Japanese families, haplotype analysis using microsatellite markers is available. In non-Japanese families, DNA sequence analysis is available. Both disease-causing alleles of an affected family member must be identified before prenatal testing can be performed.
福山型先天性肌营养不良（FCMD）的特征为婴儿期肌张力减退、对称性全身肌无力以及神经元迁移障碍，这些障碍导致的变化与伴有大脑和小脑皮质发育异常的鹅卵石样无脑回畸形一致。FCMD被认为是一种常染色体隐性遗传缺陷。建议有生育患FCMD孩子风险的父母进行遗传咨询。鉴于再次生育患有这种无法治愈的毁灭性疾病孩子的高风险和严峻前景，许多夫妇会考虑进行产前诊断。在日本家庭中，可以使用微卫星标记进行单倍型分析。在非日本家庭中，可以进行DNA序列分析。在进行产前检测之前，必须先确定受影响家庭成员的两个致病等位基因。
