| Titre : | Advances in SMN1-related proximal spinal muscular atrophy |
| Revue : | Avancées de la recherche |
| Auteurs : | Masingue M, Auteur ; Myoinfo, Auteur ; Lefebvre S, Validateur ; André C, Validateur |
| Type de document : | Publication AFM |
| Editeur : | AFM-TELETHON, 06/2022 |
| Collection : | Savoir & Comprendre |
| Pages : | 46 p |
| Langues: | Anglais |
| Résumé : |
SMN1-related proximal spinal muscular atrophy is a type of proximal spinal muscular atrophy, a rare group of genetic diseases causing degeneration of the nerve cells conveying, from the spinal cord to the muscles, messages ordering movement: the peripheral motor neurons. A decrease in the number of muscle fibres, which cannot survive without innervation, causes a lack of strength and muscle wasting (muscular atrophy). There are four types of SMN1-related proximal spinal muscular atrophy, according to age of onset and severity of the signs.
> SMN1 gene-related proximal spinal muscular atrophy > Spinal muscular atrophy (SMA) > Spinal muscular atrophy 5q > Infantile spinal muscular atrophy (ISMA) > ISMA type I and II > Werdnig-Hoffmann disease > ISMA type III > Kugelberg-Welander disease > ISMA type IV |
| Lien associé : |
Website of AFM-TELETHON more information... |
| Voir aussi : |
Documents numériques (1)
 AV22_SMA_Eng_not75846_oct2022.pdf Adobe Acrobat PDF |