[Recent advances in Fukuyama type congenital muscular dystrophy]

There have been numerous reports as well as case presentations, in the field of clinical research since Fukuyama type congenital muscular dystrophy (FCMD) was first reported by Fukuyama et al. as a peculiar form of congenital progressive muscular dystrophy (CMD). Toda et al. localized the FCMD gene locus to chromosome 9q31-33 using genetic linkage analysis. Clinical application of molecular genetic studies is a new and exciting aspect of FCMD research. The author reviewed the literature and discusses herein: [1] the classification of CMD and the position of FCMD, [2] researches on the pathogenesis and pathophysiology of FCMD, [3] DNA diagnosis using polymorphism analysis (carrier diagnosis and prenatal diagnosis), [4] approaches to clinical heterogeneity in FCMD, [5] the difference between FCMD and Walker-Warburg syndrome. In addition, data accumulated by the authors are presented.