Multi-modal MR imaging of the upper arm muscles of patients with Spinal Muscular Atrophy.
Sign Up to like & getrecommendations! Published in 2022 at "NMR in biomedicine"
DOI: 10.1002/nbm.4696
Abstract: Quantitative Magnetic Resonance Imaging (qMRI) is frequently used to map disease state and disease progression in lower extremity muscles of patients with Spinal Muscular Atrophy (SMA). This is in stark contrast with the almost complete… read more here.
Keywords: muscles patients; patients sma; muscle force; arm muscles ... See more keywords
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Neurology"
DOI: 10.1007/s00415-024-12318-z
Abstract: Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated the safety, tolerability, pharmacokinetics (PK), and PK/pharmacodynamic (PD) relationship of… read more here.
Keywords: treatment; non treatment; patients sma; risdiplam ... See more keywords
Economic burden of spinal muscular atrophy in the United States: a contemporary assessment
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Economics"
DOI: 10.1080/13696998.2019.1646263
Abstract: Abstract Aims: To estimate healthcare resource utilization (HRU) and costs among patients with spinal muscular atrophy (SMA) type 1 (SMA1) in real-world practice, overall and among patients treated with nusinersen. As a secondary objective, HRU… read more here.
Keywords: among patients; spinal muscular; patients sma; sma1 ... See more keywords
Physiotherapeutic management of patients with SMA: A questionnaire-based online survey among physiotherapists within the SMArtCARE network.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of neuromuscular diseases"
DOI: 10.1177/22143602251359801
Abstract: BACKGROUND AND OBJECTIVES Disease-modifying treatments (DMT) have dramatically changed phenotypes in patients with spinal muscular atrophy (SMA). Because publications regarding standards of care were published before DMTs emerged, detailed recommendations and guidelines for physiotherapeutic management… read more here.
Keywords: smartcare network; patients sma; physiotherapeutic management; within smartcare ... See more keywords
Cardiac pathology in spinal muscular atrophy: a systematic review
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0613-5
Abstract: BackgroundHereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN… read more here.
Keywords: spinal muscular; pathology; patients sma; muscular atrophy ... See more keywords
Treatment preferences in spinal muscular atrophy: A swing weighting study for caregivers of patients with SMA types 1 and 2
Sign Up to like & getrecommendations! Published in 2024 at "PLOS ONE"
DOI: 10.1371/journal.pone.0309666
Abstract: Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by skeletal muscle weakness and atrophy. Patients with SMA types 1 and 2 develop severe disabilities conferring substantial patient and caregiver burden. Caregiver treatment characteristic… read more here.
Keywords: spinal muscular; treatment; patients sma; sma types ... See more keywords