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
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.
José Antonio Levy +1 more
doaj +3 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
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
Cuidados de la atrofia muscular espinal [PDF]
, 2017 La atrofia muscular espinal es una enfermedad neuromuscular hereditaria poco conocida que puede aparecer en varias etapas de la vida dependiendo del tipo.
García Antolín, Ángela
core +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
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
Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study [PDF]
Journal of Patient-Reported OutcomesBackground SMA is a hereditary neuromuscular disease that causes progressive muscle weakness and atrophy. Several studies have shown that the burden of SMA is very high at many levels.
Mencía de Lemus +7 more
doaj +2 more sources
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy [PDF]
Orphanet Journal of Rare DiseasesBackground Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability.
Maria Grazia Cattinari +2 more
doaj +2 more sources
Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras
Jornal de Pediatria, 2010 OBJETIVO: Relatar as recentes descobertas genéticas e moleculares, juntamente com as perspectivas futuras, para o tratamento da atrofia muscular espinhal, auxiliando, dessa forma, os profissionais da área da saúde a fazerem um rápido diagnóstico e ...
Mariana T. C. Baioni, Celia R. Ambiel
doaj +3 more sources