Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.
The present report describes clinical variability in an affected dizygotic twin pair. Twin 1 showed classical features of the congenital myasthenic syndromes (CMS), that is, ptosis, dysphonia, asthenia and hypotonia. In twin 2, these clinical signs were less pronounced, but subtle resulting in severe lumbar hyperlordosis. Molecular analysis, performed for both twins, revealed the presence of three polymorphisms in the heterozygous form in RAPSN gene. The present report highlights the clinical variability of the CMS.
Unit of Pediatrics and Pediatric Emergency, University Hospital OVE-Policlinico, Catania, Italy. ppavone@mbox.unict.it
Piero
P
Pavone
Andrea Domenico
AD
Praticò
Vito
V
Pavone
Raffaele
R
Falsaperla
D002648:Child; D002800:Cholinesterase Inhibitors / Q000008:administration & dosage*; D005838:Genotype; D006801:Humans; D008297:Male; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000235:genetics; D010641:Phenotype; D011729:Pyridostigmine Bromide / Q000008:administration & dosage*; D016896:Treatment Outcome; D014429:Twins, Dizygotic / Q000235:genetics
D002800:Cholinesterase Inhibitors; D011729:Pyridostigmine Bromide