Document Detail

Congenital muscular dystrophy.
MedLine Citation:
PMID:  2754551     Owner:  NLM     Status:  MEDLINE    
We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made. A comparative study of these patients with those whose cases were recently reported indicates that there is a wide variability of clinical and laboratory expression of the dystrophy, but a constant feature in all patients is a progression of motor disability. The association of congenital muscular dystrophy with brain abnormalities indicates a poor clinical prognosis. At present it remains an open question whether the three variants of the disease are separate diseases or only different expressions of the same syndrome, but our study tends to support the latter hypothesis.
Q H Leyten; F J Gabreëls; W O Renier; H J Ter Laak; R C Sengers; R A Mullaart
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  115     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1989 Aug 
Date Detail:
Created Date:  1989-08-29     Completed Date:  1989-08-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  214-21     Citation Subset:  AIM; IM    
Institute of Neurology, University Hospital, Nijmegen, the Netherlands.
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MeSH Terms
Brain / pathology
Child, Preschool
Muscles / pathology
Muscular Dystrophies / congenital*,  diagnosis,  genetics
Comment In:
J Pediatr. 1990 Jul;117(1 Pt 1):166-7   [PMID:  2370606 ]

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