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1.
Medicina (B.Aires) ; 73 Suppl 1: 49-54, 2013.
Artículo en Español | LILACS, BINACIS | ID: biblio-1165148

RESUMEN

Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific treatment is only available for some of the chronic ataxias, more specifically those related to a known metabolic defect, such as abetalipoproteinemia, ataxia with vitamin E deficiency, and cerebrotendinous xanthomatosis. Treatment based on a diet with reduced intake of fat, supplementation of oral vitamins E and A, and the administration of chenodeoxycholic acid could modify the course of the disease. Although for most of autosomal recessive ataxias there is no definitive treatment, iron chelators and antioxidants have been proposed to reduce the mitochondrial iron overload in Friederich’s ataxia patients. Corticosteroids have been used to reduce ataxia symptoms in ataxia telangiectasia. Coenzyme Q10 deficiency associated with ataxia may be responsive to Co Q10 or ubidecarenone supplementations. Early treatment of these disorders may be associated with a better drug response.


Asunto(s)
Ataxia Cerebelosa/tratamiento farmacológico , Ataxia Cerebelosa/etiología , Ataxia de Friedreich/tratamiento farmacológico , Ataxia/tratamiento farmacológico , Corticoesteroides/uso terapéutico , Debilidad Muscular/tratamiento farmacológico , Deficiencia de Vitamina E/complicaciones , Enfermedad Crónica , Enfermedades Mitocondriales/tratamiento farmacológico , Humanos , Proteínas de Unión a Hierro/fisiología , Ubiquinona/deficiencia , Vitamina E/uso terapéutico
2.
Neurol India ; 2002 Dec; 50(4): 500-3
Artículo en Inglés | IMSEAR | ID: sea-121799

RESUMEN

Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sisters affected by this disorder is presented.


Asunto(s)
Adolescente , Adulto , Inhibidores de la Colinesterasa/uso terapéutico , Quimioterapia Combinada , Edrofonio/uso terapéutico , Femenino , Genes Recesivos , Humanos , Debilidad Muscular/tratamiento farmacológico , Miastenia Gravis/tratamiento farmacológico , Bromuro de Piridostigmina/uso terapéutico
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