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Fukuyama Type Congenital Progressive Muscular Dystrophy
Author(s) -
Osawa Makiko,
Arai Yumi,
Ikenaka Harumi,
Murasugi Hiroko,
Sugahara Nobuko,
Sumida Sawako,
Okada Noriko,
Shishikura Keiko,
Suzuki Haruko,
Hirayama Yoshito,
Hirasawa Kyoko,
Fukuyama Yukio,
Tsutsumi Atsuko,
Ito Keiko,
Uchida Yukio
Publication year - 1991
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1991.tb01552.x
Subject(s) - medicine , congenital muscular dystrophy , muscular dystrophy , pathology , white matter , muscle weakness , dysgenesis , dystrophy , anatomy , magnetic resonance imaging , radiology
Clincopathological features of Fukuyama type congenital muscular dystrophy (FCMD), a combination of brain malformation and muscular dystrophy with facial muscle and CNS involvement and high prevalence in Japan, are reviewed. Evidence of progressive dystrophy, negative correlations between muscle enzyme levels and age and CT numbers of muscle and age, are presented. Skeletal muscle histopathology is reviewed. Febrile illness‐induced transient exacerbation of muscle weakness is reported. Characteristic brain malformations, e.g. micropolygyria, other dysgenesis, are reviewed. Their severity correlated with maximal mental and motor function. The etiology and significance of low density areas (LDA) in white matter on CT, possibly reflecting delayed or abnormal myelination, and ventricular dilatation are discussed. Spontaneous LDA improvement makes hydrocephaly unlikely. Ophthalmological differential diagnosis from Santavouri disease and Walker‐Warburg syndrome, characterized by visual disturbance/glaucoma and microphthalmia/anterior chamber defects, respectively, is discussed. A single defective gene, manifesting as a metabolic error, may produce CNS and ocular defects as well as muscle degeneration in FCMD.