Zusammenfassung Im Dezember 2020 hat der Gemeinsame Bundesausschuss beschlossen, dass das Screening auf spinale Muskelatrophie (SMA) in allgemeine Neugeborenenscreening aufgenommen werden soll. Grundlage dieser Entscheidung war die Tatsache, inzwischen gezielte Behandlungsmöglichkeiten für Patienten mit SMA zur Verfügung stehen und Zeitpunkt, zu dem Behandlung begonnen wird, entscheidend den Er...

In the March 2021, CADTH Canadian Drug Expert Committee recommended that onasemnogene abeparvovec be reimbursed for treatment of pediatric patients with 5q spinal muscular atrophy (SMA) biallelic mutations in survival motor neuron 1 (SMN1) gene, if certain conditions were met. A request was received to develop clinical criteria could used identify SMA older than 180 days who are most likely ben...

abstract objective autosomal recessive spinal muscular atrophy (sma) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. the disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. depending on the clinical type (werdnig- ho...

Aims. We carried out sub-arcsecond resolution observations towards the high-mass star formation region G 19.61−0.23, in both continuum and molecular line emission. While the centimeter continuum images, representing ultra compact HII regions, will be discussed in detail in a forthcoming paper, here we focus on the (sub)mm emission, devoting special attention to the hot molecular core (HMC). Met...