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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
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.92832

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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.


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