Atrofia muscular proximal familiar [PDF]
Arquivos De Neuro-Psiquiatria, 1962 Os autores relatam dois casos de atrofia muscular proximal familiar, moléstia caracterizada por déficit motor e atrofias musculares de distribuição proximal, secundárias a lesão de neurônios periféricos.
J A Levy, Levy JOSÉ Antonio, E O Wittig
exaly +5 more sources
Caracterización clínica y funcional de pacientes con atrofia muscular espinal en el centro-occidente colombiano [PDF]
Biomédica: revista del Instituto Nacional de Salud, 2022 Introducción. La atrofia muscular espinal es una enfermedad neurodegenerativa huérfana de origen genético que afecta las neuronas motoras del asta anterior de la médula espinal, y produce atrofia y debilidad muscular.
Natalia Cardona +4 more
doaj +2 more sources
A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care [PDF]
Arquivos de Neuro-PsiquiatriaBackground Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.
Rodrigo Holanda Mendonça +2 more
doaj +2 more sources
Atrofias musculares espinales no asociadas a SMN1
Revista Médica Clínica Las Condes, 2018 RESUMEN: Las atrofias musculares espinales no-5q son un conjunto de entidades hereditarias, clínica y genéticamente heterogéneas secundarias a compromiso de las células del asta anterior de la médula. No están asociadas a deleción del gen de sobrevida de
Claudia Castiglioni +1 more
doaj +2 more sources
Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers [PDF]
Orphanet Journal of Rare DiseasesBackground There is a need to expand the current scope of assessment tools usually applied to patients with Spinal Muscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity) of a set of new ...
Maria Grazia Cattinari +6 more
doaj +2 more sources
Arquivos de Neuro-Psiquiatria, 2005 OBJETIVO: Descrever o perfil clínico e laboratorial de pacientes com atrofia muscular espinhal (AME) com deleção no gene da proteína sobrevivência do neurônio motor (SMN).
Alexandra Prufer de Q-C. Araújo +2 more
doaj +5 more sources
Atrofia muscular espinhal infantil progressiva relato de 12 casos
Arquivos De Neuro-Psiquiatria, 1990 Os autores relatam 12 casos de atrofia muscular espinhal infantil progressiva, diagnosticados no Hospital da Criança Santo Antonio, Porto Alegre.
Maria Helena Fontana +4 more
exaly +3 more sources
La atrofia muscular espinal en el nuevo escenario terapéutico
Revista Médica Clínica Las Condes, 2018 Resumen: Se han producido recientemente importantes avances terapéuticos en la atrofia muscular espinal (AME) por alteración del gen SMN1, conocida también como AME 5q por la localización cromosómica de dicho gen.
Eduardo F Tizzano
exaly +3 more sources
A forma pseudomiopática tardia da atrofia muscular progressiva heredo-familial
Arquivos De Neuro-Psiquiatria, 1962 Sob o rótulo de "forma pseudomiopática tardia da atrofia muscular progressiva heredo-familial" são relatados 4 casos exibindo características clínico-evolutivas similares.
Nunjo Finkel
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Parents’ perspectives on nusinersen treatment for children with spinal muscular atrophy
Developmental Medicine &Child Neurology, Volume 63, Issue 7, Page 816-823, July 2021., 2021 Aim To gain insight into parents’ perspectives about their decision‐making process concerning nusinersen treatment for their child, including perceived needs and concerns, and to explore factors that influence this process. Method This was an exploratory qualitative interview study among parents of children with spinal muscular atrophy types 1 to 3 ...
Mette van Kruijsbergen +9 more
wiley +1 more source