Document Detail

The floppy infant: contribution of genetic and metabolic disorders.
MedLine Citation:
PMID:  13129589     Owner:  NLM     Status:  MEDLINE    
The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists. The condition refers to an infant with generalized hypotonia presenting at birth or in early life. The diagnostic work up in many instances is often complex, and requires multidisciplinary assessment. Advances in genetics and neurosciences have lead to recognition of newer diagnostic entities (several congenital myopathies), and rapid molecular diagnosis is now possible for several conditions such as spinal muscular atrophy (SMA), congenital muscular dystrophies (CMD), several forms of congenital myopathies and congenital myotonic dystrophy. The focus of the present review is to describe the advances in our understanding in the genetic, metabolic basis of neurological disorders, as well as the investigative work up of the floppy infant. An algorithm for the systematic evaluation of infants with hypotonia is suggested for the practicing pediatrician/neonatologist.
Asuri N Prasad; Chitra Prasad
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Brain & development     Volume:  25     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-09-17     Completed Date:  2003-11-21     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  457-76     Citation Subset:  IM    
Section of Pediatric Neurosciences, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Manitoba, Canada.
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MeSH Terms
Diagnosis, Differential
Metabolic Diseases / diagnosis*
Muscle Hypotonia / diagnosis*,  genetics*,  metabolism,  pathology
Muscle, Skeletal / pathology*
Muscular Atrophy, Spinal / diagnosis
Muscular Diseases / diagnosis*,  genetics,  metabolism,  pathology
Muscular Dystrophies / diagnosis
Myotonic Dystrophy / diagnosis
Peripheral Nervous System Diseases / diagnosis

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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