![]() Schwartz-Jampel syndrome myotonia carbamazepineĭescrevemos cinco pacientes com a síndrome de Schwartz-Jampel (SSJ) avaliados no Ambulatório de Doenças Neuromusculares da Divisão de Neurologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, de 1996 a 1999, com o objetivo de salientar o peculiar fenótipo dismórfico e as diferentes formas clínicas da SSJ. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil About the authors , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Suely Kazue Nagahashi Marie , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Milberto Scaff , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Aron Diament , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Mary Souza Carvalho ![]() , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Thelma Correia Messias , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Maria Bernardete Dutra Resende , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Lúcio Gobbo Ferreira , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Fernando Kok , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Adriana Ávila Espíndola , Universidade de São Paulo, School of Medicine, Department of Neurology, Brazil Rubens Reimão
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