Results 91 to 100 of about 888,799 (202)

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

Frontiers in Genetics
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in SMN1, with disease severity influenced by the number of SMN2 copies.
Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Nana Nino Tatishvili, Teona Shatirishvili, Teona Shatirishvili, Ana Bedoshvili, Ana Bedoshvili, Gocha Chikvinidze, Arndt Rolfs, Arndt Rolfs, Volha Skrahina, Tinatin Tkemaladze, Tinatin Tkemaladze   +13 more
doaj   +1 more source

Risk Factors for Complications Following Paediatric Neuromuscular and Syndromic Scoliosis Correction Surgery: A Systematic Review

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham, Mia A. Percival, Moya Vandeleur, Giuliana Antolovich, Kris Lundine   +4 more
wiley   +1 more source

The role of experiential knowledge in the reproductive decision making of families genetically at risk : the case of spinal muscular atrophy [PDF]

This study reports on the analysis of 59 in-depth interviews conducted with people diagnosed with, or from families affected by, Spinal Muscular Atrophy (SMA).
Boardman, Felicity K.
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A randomized, placebo-controlled trial of creatine in children with spinal muscular atrophy

Objective: To determine whether oral creatine produces positive changes in any of 4 outcomes in children with spinal muscular atrophy (SMA). Methods: The authors conducted a randomized, double-blind, placebo-controlled trial on 55 patients aged 2-18 ...

core   +1 more source

Clinical Characteristics of Cases with Spinal Muscular Atrophy

, 2016
Introduction: The aim of this study is was to evaluate the clinical features of cases with diagnosis of spinal muscular atrophy (SMA)
GÜMÜŞ, Hakan, Bahadır, Oğuzhan, KUMANDAŞ, Sefer, Bayram, Ayse Kacar, Bahadir, Oğuzhan, DÜNDAR, Munis, PER, Hüseyin, CANPOLAT, Mehmet   +7 more
core   +1 more source

Selective modulation of NaV channel gating counteracts aberrant hyperexcitability and rescues motor function and survival in a model of spinal muscular atrophy

British Journal of Pharmacology, EarlyView.
Background and Purpose Spinal muscular atrophy (SMA) is a motor neuron disease caused by SMN1 gene loss, leading to reduced survival motor neuron (SMN) protein and progressive motor neuron degeneration. Although SMN‐restoring therapies improve outcomes, residual disease burden and non‐curative efficacy underscore the need for complementary treatments ...
Fernanda C. Cardoso, Jessica A. I. Muller, Yougang Zhang, Jean Giacomotto   +3 more
wiley   +1 more source

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study

Neurology International
Background: Spinal muscular atrophy (SMA) is a treatable motor neuron disease. Biomarkers for skeletal muscle atrophy are extremely important for measuring the effects of treatment and monitoring the natural course of the disease.
Andrea Sipos, Emese Rebeka Ripszám, Judit Mária Molnár, Zoltán Grosz, Judit Boczán, Melinda Borbála Altorjay, Livia Dézsi, Anett Csáti, Kristóf Babarczy, Norbert Kovács, Nándor Hajdú, Endre Pál   +11 more
doaj   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Spinal muscular atrophy [PDF]

, 1995
Spinal Muscular Atrophy (SMA) is one of many neuromuscular diseases affect ing motor neurons and skeletal muscles. This disorder causes deterioration of the motor neurons (specifically the Anterior Horn Cells of the spinal cord). These motor neurons that
Nowak, Deborah
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