Results 31 to 40 of about 77,106 (331)
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
The Application of Clinical Genetics, 2021 Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which causes severe progressive hypotonia and muscular weakness. With a carrier frequency
Melissa C. Keinath +2 more
semanticscholar +1 more source
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
Annals of Clinical and Translational Neurology, 2022 Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated.
Camilla Binz +20 more
doaj +1 more source
Seminars in Neurology, 2001 The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information. Autosomal recessive childhood proximal SMA is the commonest form and is due to mutations in a gene encoding
Talbot, K, Davies, K
openaire +4 more sources
Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study
Muscle and Nerve, 2021 The EMBRACE study (Clinical Trials No. NCT02462759) evaluated nusinersen in infants/children with infantile‐ or later‐onset spinal muscular atrophy (SMA) who were ineligible for the ENDEAR and CHERISH studies.
G. Acsadi +10 more
semanticscholar +1 more source
Rehabilitation in spinal muscular atrophy
Medycyna Ogólna i Nauki o Zdrowiu, 2021 Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj +1 more source
Update on Biomarkers in Spinal Muscular Atrophy
Biomarker Insights, 2021 The availability of disease modifying therapies for spinal muscular atrophy (SMA) has created an urgent need to identify clinically meaningful biomarkers. Biomarkers present a means to measure and evaluate neurological disease across time.
Megan G Pino, Kelly A. Rich, S. Kolb
semanticscholar +1 more source
IJU Case Reports, 2022 Introduction We report a prostate cancer case diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy which is a X‐linked recessive, lower motor neuron disease.
Atsuhi Yanase +9 more
doaj +1 more source
Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children
Annals of Clinical and Translational Neurology, 2021 The aim of this study was to evaluate neurofilament light chain as blood biomarker for disease activity in children and adolescents with different types of spinal muscular atrophy (SMA) and establish pediatric reference values.
E. Nitz +6 more
semanticscholar +1 more source
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
Annals of Clinical and Translational Neurology, 2021 To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q‐associated ...
M. Freigang +20 more
semanticscholar +1 more source
The efficacy and safety of nusinersen within the expanded access program in Russia
Нервно-мышечные болезни, 2020 Introduction. Spinal muscular atrophy is a severe neuromuscular disease characterized by rapid progression of muscle weakness and early death. Pathogenetic therapy with nusinersen can significantly change the course of the disease and enable the patient ...
S. B. Artemieva +12 more
doaj +1 more source