Results 1 to 10 of about 190 (107)

Clinical-functional characterization of patients with spinal muscular atrophy in Central-Western Colombia [PDF]

Biomedica, 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.
Cardona N, Ocampo SJ, Estrada JM, Mojica MI, Porras GL.   +4 more
europepmc   +2 more sources

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers. [PDF]

Orphanet J Rare Dis
Background 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 ...
Cattinari MG, Pascual-Pascual SI, de Lemus M, Medina J, Dumont M, Rebollo P, Vázquez-Costa JF.   +6 more
europepmc   +2 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 Tizzano
exaly   +3 more sources

Sobrecarga del cuidador de pacientes con atrofia muscular espinal

Revista Médica Clínica Las Condes, 2020
Resumen: Introducción: La sobrecarga del cuidador ha sido ampliamente descrita en gerontología, pocos estudios la abordan en niños con enfermedades neuromusculares.
Claudia Castiglioni, Maripaz Martínez-Jalilie, Magdalena Castro   +2 more
exaly   +3 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]

J Patient Rep Outcomes
Background 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.
de Lemus M, Cattinari MG, Pascual SI, Medina J, García M, Magallón A, Dumont M, Rebollo P.   +7 more
europepmc   +2 more sources

Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study. [PDF]

Neurol Ther, 2023
Introduction Outcome measures traditionally used in spinal muscular atrophy (SMA) clinical trials are inadequate to assess the full range of disease severity.
Vázquez-Costa JF, Branas-Pampillón M, Medina-Cantillo J, Povedano M, Pitarch-Castellano I, López-Lobato M, Fernández-Ramos JA, Lafuente-Hidalgo M, Rojas-García R, Caballero-Caballero JM, Málaga I, Eirís-Puñal J, De Lemus M, Cattinari MG, Cabello-Moruno R, Díaz-Abós P, Sánchez-Menéndez V, Rebollo P, Maurino J, Madruga-Garrido M.   +19 more
europepmc   +2 more sources

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy. [PDF]

Orphanet J Rare Dis
Background 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.
Cattinari MG, de Lemus M, Tizzano E.
europepmc   +2 more sources

ATROFIA MUSCULAR ESPINAL: MANEJO RESPIRATORIO EN LA PERSPECTIVA DE LOS RECIENTES AVANCES TERAPÉUTICOS

Revista Médica Clínica Las Condes, 2017
La atrofia muscular espinal (AME) es la primera causa genética de mortalidad en lactantes. La severidad de las manifestaciones clínicas es un continuo, con tres principales subtipos en pediatría: AME1 que se presenta en recién nacidos y no logran ...
Claudia Castiglioni
exaly   +3 more sources

Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol. [PDF]

Neurol Ther
Introduction The objective of this study is to develop a clinical tool for the evaluation and follow-up of adolescent and adult patients with 5q spinal muscular atrophy (SMA) and to design its validation.
Rebollo P, García-López S, Povedano M, Cattinari MG, Martínez-Moreno M, Terrancle Á, Cabello-Moruno R, Vázquez-Costa JF.   +7 more
europepmc   +2 more sources

Tratamiento de pacientes con atrofia muscular espinal 5q: hacia un nuevo protocolo

Neurología, 2021
Juan Francisco Vázquez Costa
exaly   +3 more sources