Natera de Benito Daniel, Ortez Carlos, Carrera García Laura, Expósito Jessica, Bobadilla Edna, Nascimento Andrés
Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Sant Joan de Déu, Barcelona, España.
Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Sant Joan de Déu, Barcelona, España. E-mail:
Medicina (B Aires). 2019;79 Suppl 3:82-86.
Important advances have been made in the field of congenital myopathies in recent years, forcing clinicians to constantly review and update this group of diseases. The increasing identification of new genes and phenotypes associated with already known genes has been possible to a great extent thanks to the development accomplished in next generation sequencing techniques, which are increasingly accessible. Knowing better the phenotypic spectrum of these entities allows to establish a phenotype/genotype correlation in some subgroups. The best understanding of the pathophysiology and natural history of these diseases are fundamental to design new therapies. The first clinical trials in the field of gene therapy are already a reality and are showing positive results, creating a new expectation for patients, families and specialists, which will be reflected in the need to adapt the protocols of care, diagnosis and treatment of some of these entities. It is essential that pediatric neurologists, pediatricians, physiotherapists and other professionals involved in the care of these patients are informed and updated on the advances in this group of diseases.
近年来，先天性肌病领域取得了重要进展，这迫使临床医生不断回顾和更新这组疾病。由于下一代测序技术的发展（这种技术越来越容易获得），在很大程度上能够越来越多地鉴定出与已知基因相关的新基因和新表型。更好地了解这些疾病的表型谱有助于在一些亚组中建立表型/基因型相关性。对这些疾病的病理生理学和自然史有更深入的了解是设计新疗法的基础。基因治疗领域的首批临床试验已经成为现实，并且正在显示出积极的结果，这为患者、家庭和专家带来了新的期望，这将体现在需要调整其中一些疾病的护理及诊断和治疗方案上。至关重要的是，参与这些患者护理的儿科神经科医生、儿科医生、物理治疗师和其他专业人员要了解并跟上这组疾病的进展。
