Two Dutch siblings with congenital muscular dystrophy (Fukuyama type) |
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| Authors: | J.S.H. Vles M.C.T.F.M. de Krom R. Visser C.J. Höweler |
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| Affiliation: | 1. Department of Neurology (head: Prof. dr. P. J. M. van der Lugt), St. Annadal Hospital, Medical Faculty, University of Limburg, P.O. Box 616, 6200 MD Maastricht, The Netherlands;2. Department of Pathology (head: Prof dr. G. J. V. Swaen), St. Annadal Hospital, Medical Faculty, University of Limburg, P.O. Box 616, 6200 MD Maastricht, The Netherlands |
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| Abstract: | Two Dutch siblings are described suffering from muscular weakness, hypotonia, severe joint contractures, mental retardation and epileptic fits. E.M.G. showed a characteristic myopathic pattern. Muscle biopsy revealed changes consistent with congenital muscular dystrophy. On CT marked hypodensities of the cerebral white matter were noticed. These findings are consistent with congenital muscular dystrophy of the Fukuyama type, a peculiar form of congenital muscular dystrophy, extremely rare outside Japan. |
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