Chondrodystrophic myotonia: electromyographic and cardiac features of a case.
TheSchwartz-Jampel syndrome or chondrodystrophic myotonia is a rare disease characterized by dwarfism, diffuse osteoarticular alterations, blepharospasm, perioral muscular contractions and electromyographic alterations. The authors present a case of chondrodystrophic myotonia focusing mainly on facial electromyographic and cardiac findings. The electromyography of the orbicularis oculi muscles showed abundant myotonic discharges like other facial muscles as well as muscles of the members. It was not possible to obtain true electrical silence between myotonic discharges, suggesting that the blepharospasm is a consequence of persistent muscular contraction. No conclusive evidence of myocardiopathy was given by clinical or laboratory cardiac examinations. General characteristics of the syndrome are discussed as well as the treatment with procamide and phenytoin.
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D002675:Child, Preschool; D004392:Dwarfism / Q000503:physiopathology*; D004576:Electromyography; D005141:Eyelid Diseases / Q000503:physiopathology; D005260:Female; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D009119:Muscle Contraction; D009136:Muscular Dystrophies / Q000503:physiopathology*; D009223:Myotonic Dystrophy / Q000503:physiopathology; D009801:Oculomotor Muscles / Q000503:physiopathology; D013577:Syndrome