DISTROFIA MUSCULAR DE FUKUYAMA PDF

Fukuyama congenital muscular dystrophy FCMD is a form of congenital muscular dystrophy. However, it has also been reported as far as Netherlands and Australia in patients without Japanese ancestry 1. Affected infants are hypotonic and have generalized symmetric weakness affecting proximal, distal, and facial muscles by 9 months of age 1,3. These features ultimately progress into childhood, and are accompanied by developmental delay and intellectual disability 1,3.

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Congenital progressive muscular dystrophy of the Fukuyama type: description of one case. Salum II ; Mario W. The authors report the first Fukuyama type congenital progressive muscular dystrophy case described in Brazil, and confirmed through clinical findings and complementary tests. Emphasis is given to the presence of early fibro-tendinous retractions and impairment of the central nervous system, which constitute the fundamental characteristics of this affection.

This disease is very common in Japan but very seldom described in other countries. Its etiopa-thogeny has not yet been defined. Full text available only in PDF format. Child Neurol. Paediatric Univ. Tokyo , Brain Dev. YCHE, E. Acta, paediatr. Vinken, G. Bruyn eds. North Holland, Amsterdam, Tokyo Women's med. Okinaka ed.

Tokyo, , pg. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Services on Demand Journal. SUMMARY The authors report the first Fukuyama type congenital progressive muscular dystrophy case described in Brazil, and confirmed through clinical findings and complementary tests.

Vergueiro, sl. How to cite this article.

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Distrofia muscular congénita de Fukuyama

Human disease. FCMD muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A, 4 MDDGA4 Muscular dystrophy, congenital progressive, with mental retardation Cerebromuscular dystrophy, Fukuyama type Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Fukuyama type muscular dystrophy. Disease Ontology release Disease Ontology ID. Monarch Disease Ontology release sonu.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Fukuyama type muscular dystrophy FCMD is a congenital progressive muscular dystrophy characterized by brain malformation cobblestone lissencephaly , dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. The disease has a high prevalence in the Japanese population and is extremely uncommon elsewhere. Disease onset typically occurs in early infancy. Initial symptoms include a poor suck, weak cry, floppiness and developmental delay.

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