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Article
October 1982

Fukuyama-Type Congenital Muscular Dystrophy

Author Affiliations

Research and Clinical Center for Child Development Faculty of Education Hokkaido University North 11, West 7 Sapporo, 060 Japan

Arch Neurol. 1982;39(10):671. doi:10.1001/archneur.1982.00510220069020
Abstract

To the Editor.—  A peculiar form of congenital progressive muscular dystrophy, Fukuyama-type congenital muscular dystrophy (FCMD), which is associated with early-onset hypotonia, involvement of facial muscles, joint contracture, and severe mental retardation, was first reported by Fukuyama et al in Japan.1 In encountered a case of FCMD in which an extensive low-density area in the patient's cerebral white matter disappeared at 3 years of age.

Report of a Case.—  The gestation and delivery of our patient were uneventful. Her parents were not consanguineous. Her head control was poor at the age of 6 months. Serum creatine phosphokinase level was 700 IU/L and aldolase level was 22 IU/L. Histopathologic findings in biopsy specimens of quadriceps femoris muscle showed variation in fiber size and dense, connective-tissue proliferation in the perimysium and the central nuclei. The EEG showed slight dysrhythmia. A cranial computed tomographic scan showed an abnormal low-density area in the

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