Možnosti terapie nervosvalových onemocnění v dětském věku - Duchennova svalová dystrofie a spinální muskulární atrofie.
| Title in English | Possibilities of therapy of neuromuscular diseases in childhood - Duchenne muscular dystrophy and spinal muscular atrophy |
|---|---|
| Authors | |
| Year of publication | 2019 |
| Type | Article in Periodical |
| Magazine / Source | Farmakoterapeutická revue |
| MU Faculty or unit | |
| Citation | |
| Web | https://farmakoterapeutickarevue.cz/cs/moznosti-terapie-nervosvalovych-onemocneni-v-detskem-veku-duchennova-svalova-dystrofie-a-spinalni-muskularni-atrofie |
| Keywords | neuromuscular disorders; Duchenne muscular dystrophy; spinal muscular atrophy; ataluren; nusinersen; exon skipping; gene therapy |
| Description | Neuromuscular disorders are with their incidence less than 1:5000 rare diseases with clinical manifestation of progressive muscle weakness. Due to new diagnostic tool esp. due to progress in molecular genetic methods our knowledge about these diseases grows and new drugs have been developed. The article is focused on therapeutic possibilities of Duchenne muscular dystrophy and spinal muscular atrophy. Neuromuscular disorders are with their incidence less than 1:5000 rare diseases with clinical manifestation of progressive muscle weakness. Due to new diagnostic tool esp. due to progress in molecular genetic methods our knowledge about these diseases grows and new drugs have been developed. The article is focused on therapeutic possibilities of Duchenne muscular dystrophy and spinal muscular atrophy. Neuromuscular disorders are with their incidence less than 1:5000 rare diseases with clinical manifestation of progressive muscle weakness. Due to new diagnostic tool esp. due to progress in molecular genetic methods our knowledge about these diseases grows and new drugs have been developed. The article is focused on therapeutic possibilities of Duchenne muscular dystrophy and spinal muscular atrophy. |