Résumé :
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The results of prolonged valproic acid (VA) treatment of 13 patients affected with proximal spinal muscular atrophy (SMA) are summarized. Positive clinical response was registered in 10 out of 13 SMA patients. Some minor clinical progress was registered in only 1 out of 2 SMA-1 patients with severe early manifestation of disease. Out of the rest 11 SMA-2 patients drastic clinical improvements were registered in only 2 subjects, who had got the ability to walk without extra assistance. Moderate improvements in some muscles contractions and normalization in electromyography were observed in 7 SMA patients, while only definite clinical stabilization was obvious in the rest 2 SMA patients under present study. Common neurological examination failed to reveal any positive clinical manifestation in the latter group. Thus positive outcome of VA treatment are rather variable in SMA patients. The success of VA treatment depends on the age of manifestation onset as well as the severity of locomotion defects, before treatment. VA-treatment of SMA-2 patients seems to be mostly beneficial provided if it is started before 4 years age when many muscles are still operative and thus many motor neurons still remain alive. Further progress in SMA therapy could be attributed to precise estimation of SMN-2 genes counts, evaluation of primary RNA transcript doses for SMN2 genes as well as monitoring of neurotrophic protein –SMN-protein levels during all courses of the treatment with VA preparations.
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