| Autor: |
Erik Harms, Jürgen Durner, Wulf Röschinger, Katharina Vill, Astrid Blaschek, Brunhilde Wirth, Bernhard Olgemöller, Katja Eggermann, Oliver Schwartz, Siegfried Burggraf, Heike Kölbel, Ulrike Schara, Uta Nennstiel, Ludwig Czibere, Wolfgang Müller-Felber, Dieter Gläser, Marc Becker |
| Rok vydání: |
2020 |
| Předmět: |
|
| Popis: |
Background: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since early diagnosis and treatment are essential to prevent major disability, newborn screening (NBS) has come into focus. Methods: The pilot project in two federal states of Germany started in January 2018 and is still ongoing. Genetic screening via PCR of the SMN1 gene from dried blood spots was implemented in the routine NBS structure. Follow-up included neuropediatric and neurophysiological examinations, CHOP INTEND and HINE-2. Findings: Among 297,163 screened children, 43 cases of SMA were identified resulting in an incidence of 1:6910. Two SMN2 copies were identified in 39.5%, 3 SMN2 copies in 21% and 4 SMN2 copies in 39.5% of patients. In 21 patients with ≤3 SMN2 copies, treatment with Nusinersen was started within 14-39 days after birth. To date, all presymptomatically treated patients have remained asymptomatic. 41% of patients with 2 SMN2 copies had already had early, mostly subtle signs of disease such as ulnar CMAP |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
