[Neuromuscular diseases in pediatrics with specific treatments].

This article provides an overview of neuromuscular diseases in childhood for pediatric neurologists, highlighting conditions with available specific treatments. It focuses on spinal muscular atrophy (SMA), where disease-modifying therapies have changed the natural history of the disease. Congenital myasthenic syndromes are addressed next, emphasizing the importance of genetic diagnosis for tailored therapies. In the field of muscular dystrophies, we will highlight advances in Duchenne. Mitochondrial myopathies are also reviewed, with mention of treatments such nucleoside for timidine kinase deficiency. Pompe disease is highlighted due to the availability of enzyme replacement therapy and finally, the article discusses treatable metabolic myopathies, such as riboflavin transporter deficiencies. This review aims to promote early diagnosis and personalized management in neuromuscular disorders.