Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I

2013 ◽  
Vol 23 (2) ◽  
pp. 112-115 ◽  
Author(s):  
Richard S. Finkel
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type

scholarly journals Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I

2021 ◽  
Vol 10 (23) ◽  
pp. 5540
Author(s):  
Andrada Mirea ◽  
Elena-Silvia Shelby ◽  
Mihaela Axente ◽  
Mihaela Badina ◽  
Liliana Padure ◽  
...  
Keyword(s):  
Combination Therapy ◽  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Combined Therapy ◽  
Genetic Defect ◽  
Survival Motor Neuron ◽  
Control Group ◽  
Type I ◽  
Spinal Muscular Atrophy Type

Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease, characterized by decreased amounts of survival motor neuron (SMN) protein, due to an autosomal recessive genetic defect. Despite recent research, there is still no cure. Nusinersen, an antisense oligonucleotide acting on the SMN2 gene, is intrathecally administered all life long, while onasemnogene abeparvovec-xioi, a gene therapy, is administered intravenously only once. Both therapies have proven efficacy, with best outcomes obtained when administered presymptomatically. In recent years, disease-modifying therapies such as nusinersen and onasemnogene abeparvovec-xioi have changed the natural history of SMA. Methods: We observed seven SMA type I patients, who received both therapies. We compared their motor function trajectories, ventilation hours and cough assist sessions to a control group of patients who received one therapy, in order to investigate whether combination therapy may be more effective than a single intervention alone. Results: Patients who received both therapies, compared to the monotherapy cohort, had the same motor function trajectory. Moreover, it was observed that the evolution of motor function was better in the 6 months following the first therapy than in the first 6 months after adding the second treatment. Conclusions: Our results suggest that early treatment is more important than combined therapy.

scholarly journals Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation

2021 ◽  
Vol 40 (4) ◽  
pp. 1578-1587
Author(s):  
Andrea Foppiani ◽  
Ramona De Amicis ◽  
Alessandro Leone ◽  
Simone Ravella ◽  
Giorgio Bedogni ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Fat Mass ◽  
Muscular Atrophy ◽  
Type I ◽  
Internal Validation ◽  
Spinal Muscular Atrophy Type ◽  
Children Development

scholarly journals Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series

Children ◽  
2021 ◽  
Vol 8 (11) ◽  
pp. 1039
Author(s):  
Minsu Gu ◽  
Hyun-Ho Kong
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Daily Living ◽  
Muscular Atrophy ◽  
Case Series ◽  
Manual Dexterity ◽  
Gross Motor ◽  
Spinal Muscular Atrophy Type ◽  
Gross Motor Function

Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity. The present study aimed to investigate the ability of nusinersen to improve fine manual dexterity in patients with SMA type 2. A total of five patients with SMA type 2 were included. The Hammersmith Functional Motor Scale (expanded version) (HFMSE) and Purdue Pegboard (PP) tests were used to evaluate gross motor function and fine manual dexterity, respectively, until 18 months after nusinersen administration. HFMSE scores improved by 3–10 points (+13–53%) in all patients following nusinersen administration. PP scores also improved in all patients, from 4 to 9 points (+80–225%) in the preferred hand and from 3 to 7 points (+60–500%) in the non-preferred hand. These results suggest that nusinersen treatment improved both gross motor function and fine manual dexterity in children with SMA type 2. Addition of the PP test may aid in evaluating the fine manual dexterity essential for activities of daily living in these patients.

scholarly journals Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1

2019 ◽  
Vol 36 (5) ◽  
pp. 1164-1176 ◽  
Author(s):  
Omar Dabbous ◽  
Benit Maru ◽  
Jeroen P. Jansen ◽  
Maria Lorenzi ◽  
Martin Cloutier ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Type

scholarly journals Drug treatment for spinal muscular atrophy type I

2019 ◽  
Author(s):  
Renske I Wadman ◽  
W Ludo van der Pol ◽  
Wendy MJ Bosboom ◽  
Fay-Lynn Asselman ◽  
Leonard H van den Berg ◽  
...  
Keyword(s):  
Drug Treatment ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type

Clinical factors as predictors of survival in spinal muscular atrophy type I

2008 ◽  
Vol 18 ◽  
pp. S43-S47 ◽  
Author(s):  
Adele D'Amico ◽  
Marina Cuttini ◽  
Lucilla Ravà ◽  
Eugenio Mercuri ◽  
Sonia Messina ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Clinical Factors ◽  
Spinal Muscular Atrophy Type

Werdnig Hoffman'S Disease (Spinal Muscular Atrophy Type I): A Clinical Study of 25 Saudi Nationals in Al-Khobar

1992 ◽  
Vol 12 (1) ◽  
pp. 67-71 ◽  
Author(s):  
Saad Al-Rajeh ◽  
Olajide Bademosi ◽  
Generoso G. Gascon ◽  
David Stumpf
Keyword(s):  
Clinical Study ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type
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