title: Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations.
abstract: The Fukuyama type congenital muscular dystrophy (FCMD), which was firstly described by one of the authors in 1960, is now recognized as an independent subtype of progressive muscular dystrophy in Japan. Recent advances in clinical, pathological and etiological studies of this syndrome were extensively reviewed. A long-term observation on a large number of cases revealed a wide spectrum of clinical features and courses, and comprehensive laboratory examinations including cranial computed tomography disclosed several new findings. A sharp dichotomy exists in the study of etiology; the genetic or intrauterine infection theories, with reasonable grounds for each. The most conspicuous is the fact that FCMD had been seldom described in countries other than Japan. If attention and interest on FCMD expand in a worldwide scale, the elucidation of basic pathogenesis of this disorder will be facilitated rapidly.
mesh_terms: D002490:Central Nervous System / Q000473:pathology; D003241:Consanguinity; D003286:Contracture / Q000209:etiology; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D009048:Motor Skills; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D003294:Seizures, Febrile / Q000209:etiology; D014057:Tomography, X-Ray Computed