Advances in the diagnosis and treatment of congenital myasthenic syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 672-676, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-828687
ABSTRACT
Congenital myasthenic syndrome (CMS) is a group of clinical and genetic heterogeneous diseases caused by impaired neuromuscular transmission due to genetic defects. At present, it has been reported that more than 30 genes can cause CMS. All CMS subtypes have the clinical features of fatigue and muscle weakness, but age of onset, symptoms, and treatment response vary with the molecular mechanisms underlying genetic defects. Pharmacotherapy and symptomatic/supportive treatment are the main methods for the treatment of CMS, and antisense oligonucleotide technology has been proven to be beneficial for CHRNA 1-related CMS in animals. Since CMS is a group of increasingly recognized clinical and genetic heterogeneous diseases, an understanding of the latest knowledge and research advances in its clinical features, genetic research, and treatment helps to give early diagnosis and treatment as well as gain a deeper understanding of the pathogenesis of CMS, so as to make new breakthroughs in the treatment of CMS.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Terapéutica
/
Síndromes Miasténicos Congénitos
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Animales
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2020
Tipo del documento:
Artículo
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