RESUMEN

Nearly all patients with multiple sclerosis (MS) will develop spasticity in the course of their disease. This symptom accounts for most of the handicap and impairment in the quality of life. Treatment with botulinum toxin will enable an efficient and safe alleviation of spasticity and the problems involved, given a realistic definition of the therapeutic target and a graded multimodal approach. Treatment may fail for a great number of reasons that require diligent analysis. Compared with other disorders resulting in spasticity as well, MS does not constitute a monophasic disorder but is influenced by many factors. Treatment of spasticity in MS must therefore be guided by its particular aspects.

Asunto(s)

Toxinas Botulínicas Tipo A/uso terapéutico , Esclerosis Múltiple/tratamiento farmacológico , Fármacos Neuromusculares/uso terapéutico , Humanos , Esclerosis Múltiple/fisiopatología , Espasmo/tratamiento farmacológico , Espasmo/fisiopatología

RESUMEN

Mutations in the gene for epsilon-sarcoglycan (SGCE) have been found to cause myoclonus-dystonia syndrome. We now report clinical and genetic findings in nine additional European families with myoclonus-dystonia syndrome. The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.

Asunto(s)

Proteínas del Citoesqueleto/genética , Trastornos Distónicos/genética , Glicoproteínas de Membrana/genética , Mioclonía/genética , Adolescente , Adulto , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Impresión Genómica , Genotipo , Humanos , Lactante , Masculino , Mutación , Penetrancia , Fenotipo , Sarcoglicanos , Factores Sexuales