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Background: Nusinersen recently became available as the first treatment for Spinal Muscular Atrophy (SMA) and data on its effectiveness and safety in adult SMA patients are still scarce. Methods: We evaluated the effectiveness and safety of nusinersen treatment during 14 months in 16 adult patients with SMA types 3 and 4 in a prospective study, and retrospectively detailed the natural history of 48 adult SMA patients types 2, 3 and 4. Results: Hand grip strength (p = 0.03), hand motor function (p = 0.04) as assessed by a sub-score of the Revised Upper Limb Module (RULM) and the Medical Research Council (MRC) sum score (p = 0.04) improved significantly at month 14. Importantly, the MRC sum score had declined significantly (p < 0.01) prior to start of treatment in these patients. A minimal clinically important difference (MCID) in the Hammersmith Functional Motor Scale Expanded (HFMSE) and RULM scores was achieved in 31% and 50% of the patients, respectively, but the mean changes from baseline failed to reach significance. Forced Vital Capacity (FVC) transiently increased at month 6 (p = 0.01), whereas the Peak Expiratory Flow (PEF) did not. The Activity Limitations scale declined significantly prior to start of treatment (p < 0.01) and showed an improvement with nusinersen which was not significant. The safety evaluation did not reveal serious adverse events and no signs of nephrotoxicity or antisense oligonucleotide (ASO)-mediated inflammation. Conclusions: We conclude that hand grip strength and hand motor function, as well as MRC sum scores improved significantly in nusinersen-treated adult patients with SMA types 3 and 4. [ABSTRACT FROM AUTHOR]

Vallecular cysts are an unusual cause of congenital stridor. To describe the imaging findings in five patients, with emphasis on the usefulness of sonographic studies. Between 1990 and 2007, five patients with a cystic lesion situated in the anterior neck, at the vallecular space, were seen in our institution. Clinical records and imaging findings were retrospectively reviewed. All patients presented with persistent inspiratory stridor that was present from the first week of life. Neck US was performed as part of the investigations in four and showed a vallecular cyst. The diagnosis was confirmed with flexible bronchoscopy in four infants and CT in one; all were resected. Pathology showed a multilayered epithelial border with normal thickness and differentiation; there were no signs of malignancy. Although vallecular cysts are very rare, they should be considered in the differential diagnosis of congenital stridor. When the commonest causes have been ruled out, neck US may be diagnostic. The diagnosis can be confirmed with flexible bronchoscopy or further imaging such as CT or MRI. [ABSTRACT FROM AUTHOR]