home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 662      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORT
Year : 2011  |  Volume : 6  |  Issue : 2  |  Page : 124-126

Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants


Department of Paediatric Neurology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom

Correspondence Address:
Arif Khan
Department of Paediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, LE1 5WW
United Kingdom
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.92832

Rights and Permissions

Congenital myasthenic syndromes are a group of rare genetic disorders affecting neuromuscular transmission. A high index of suspicion is required as clinical manifestations can be variable and nonspecific. Clinical phenotype includes arthrogryposis, respiratory crises, facial deformities, and weakness. With the availability of molecular genetics, this group of conditions can now be more clearly delineated and targeted treatment can be initiated. We describe three children who presented with bulbar difficulties and had Cholinergic receptor, nicotinic, and epsilon or receptor associated protein of the synapse mutations.






[FULL TEXT] [PDF]*


        
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed2464    
    Printed79    
    Emailed0    
    PDF Downloaded108    
    Comments [Add]    

Recommend this journal