Escala de evaluación funcional de extremidades superiores en niños con distrofia muscular de Duchenne y Atrofia músculo espinal

Escobar, Raúl G.; Lucero, Nayadet; Solares, Carmen; Espinoza, Victoria; Moscoso, Odalie; Olguín, Polín; Munoz, Karin T.; Rosas, Ricardo

doi:10.1016/j.rchipe.2016.07.003

Cited by 3 publications

(2 citation statements)

References 34 publications

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“…Su progresión es rápida, irreversible, progresiva y discapacitante (15), está marcada por el desgaste de los músculos proximales, particularmente los de la pelvis, luego afecta a todos los músculos del cuerpo con un pronóstico de vida no mayor de tres décadas (8).…”

Section: Pronósticounclassified

Distrofia muscular de Duchene: diagnóstico y tratamiento

Vargas¹,

Rodríguez²,

Gutiérrez³

2019

Rev.méd.sinerg.

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La distrofia muscular de Duchene es una enfermedad genética ligada al cromosoma X, causada principalmente por delecciones o duplicaciones en el gen de la distrofina; con un desgaste de los músculos proximales, particularmente los de la pelvis. Los síntomas clínicos suelen ser más visibles alrededor de los 6 años de edad, pero son varones que desde el nacimiento presentan retraso en el neurodesarrollo; y la mayoría pierden la habilidad para la marcha alrededor de los 12-14 años. Se utiliza la medición de niveles de creatinina fosfokinasa, biopsia muscular, electromiografía y pruebas genéticas como herramientas para llegar a un diagnóstico. Estos pacientes suelen tener un pronóstico de vida no mayor a tres décadas. No hay ningún tratamiento que sea curativo, pero se utilizan algunos fármacos para disminuir su evolución y medidas como la fisioterapia para mejorar la calidad de vida.

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Section: Pronósticounclassified

Distrofia muscular de Duchene: diagnóstico y tratamiento

Vargas¹,

Rodríguez²,

Gutiérrez³

2019

Rev.méd.sinerg.

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“…This analysis of clinical evolution is made possible by the application of functional scales. 5 Functional capacity is an important aspect that works as an indicator of the subject's degree of independence, for carrying out activities of daily living. Preventive measures and therapeutic interventions are essential to reduce the individual's disabilities.…”

Section: Introductionmentioning

confidence: 99%

Burden of caregivers of patients with duchenne muscular dystrophy: relationship to functional capacity / Sobrecarga de cuidadores de pacientes com Distrofia Muscular de Duchenne: relação com a capacidade funcional

Eduardo

Oliveira

Ribeiro

et al. 2021

R.pesq.:cuid.fundam.Online

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Objetivo: Relacionar a capacidade funcional de pacientes com Distrofia Muscular de Duchenne com a sobrecarga dos seus cuidadores familiares. Métodos: Estudo transversal com amostra composta por 35 pacientes e seus cuidadores familiares, de um centro de reabilitação de Goiânia-GO. Foram utilizados para avaliação da capacidade funcional a Escala de Vignos, Medida da Função Motora, Índice de Barthel e Escala Egen Klassification e para avaliação da sobrecarga o Burden Interview. Resultados: Os cuidadores estavam com sobrecarga moderada, com média de 23,6 (±10,3). A pontuação média dos instrumentos demonstrou que os pacientes estavam em fase avançada de estadiamento da doença e prejuízo da capacidade funcional. Não foi encontrada relação significativa entre a sobrecarga dos cuidadores e a capacidade funcional dos pacientes. Conclusão: O cuidador está diretamente ligado à função de zelar do paciente, portanto a equipe multiprofissional precisa se atentar também à saúde mental deste, oferecendo suporte para intervenções especializadas.

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α‐Ketoglutarate prevents skeletal muscle protein degradation and muscle atrophy through PHD3/ADRB2 pathway

et al. 2017

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Skeletal muscle atrophy due to excessive protein degradation is the main cause for muscle dysfunction, fatigue, and weakening of athletic ability. Endurance exercise is effective to attenuate muscle atrophy, but the underlying mechanism has not been fully investigated. α-Ketoglutarate (AKG) is a key intermediate of tricarboxylic acid cycle, which is generated during endurance exercise. Here, we demonstrated that AKG effectively attenuated corticosterone-induced protein degradation and rescued the muscle atrophy and dysfunction in a Duchenne muscular dystrophy mouse model. Interestingly, AKG also inhibited the expression of proline hydroxylase 3 (PHD3), one of the important oxidoreductases expressed under hypoxic conditions. Subsequently, we identified the β adrenergic receptor (ADRB2) as a downstream target for PHD3. We found AKG inhibited PHD3/ADRB2 interaction and therefore increased the stability of ADRB2. In addition, combining pharmacologic and genetic approaches, we showed that AKG rescues skeletal muscle atrophy and protein degradation through a PHD3/ADRB2 mediated mechanism. Taken together, these data reveal a mechanism for inhibitory effects of AKG on muscle atrophy and protein degradation. These findings not only provide a molecular basis for the potential use of exercise-generated metabolite AKG in muscle atrophy treatment, but also identify PHD3 as a potential target for the development of therapies for muscle wasting.-Cai, X., Yuan, Y., Liao, Z., Xing, K., Zhu, C., Xu, Y., Yu, L., Wang, L., Wang, S., Zhu, X., Gao, P., Zhang, Y., Jiang, Q., Xu, P., Shu, G. α-Ketoglutarate prevents skeletal muscle protein degradation and muscle atrophy through PHD3/ADRB2 pathway.

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Escala de evaluación funcional de extremidades superiores en niños con distrofia muscular de Duchenne y Atrofia músculo espinal

Abstract: This scale is a reliable and valid tool for assessing UL functionality in children with DMD and SMA. It is also easily implementable due to the possibility of self-training and the use of simple and inexpensive materials.

Cited by 3 publications

References 34 publications

Distrofia muscular de Duchene: diagnóstico y tratamiento

Distrofia muscular de Duchene: diagnóstico y tratamiento

Burden of caregivers of patients with duchenne muscular dystrophy: relationship to functional capacity / Sobrecarga de cuidadores de pacientes com Distrofia Muscular de Duchenne: relação com a capacidade funcional

α‐Ketoglutarate prevents skeletal muscle protein degradation and muscle atrophy through PHD3/ADRB2 pathway

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