Neuromuscular diseases are a very heterogeneous group of diseases which affect the lower motor neuron, the peripheral nervous system, the neuromuscular junction, and the muscle. Neuromuscular disorders are predominantly genetically conditioned and are therefore very important in the paediatrics. There are several approved therapies for the treatment of spinal muscular atrophy (SMA). Therapies such as nusinersen, an antisense oligonucleotide, and risdiplam, a small molecule, modify the splicing mechanism in order to include exon 7 in transcripts of the SMN2 (survival motor neuron 2) gene. Thus, an increased amount of SMN (survival motor neuron) protein is available and patients show ameliorated motor function not expected within the natural course of the disease. Onasemnogene abeparvoveck is a gene therapy which includes the direct manipulation of the patient's genome. A functional copy of the mutated gene is delivered by viral vectors - adeno associated viruses (AAV). Patients experience improvements to motor function and develop increased motor capacity, and the ventilation-free survival rate is increased as well. Ataluren is a small molecule which can stabilise the muscle function by enabling the readthrough of a premature stop codon in patients with a nonsense mutation caused Duchenne muscular dystrophy (DMD). Some therapies such as eteplirsen, re-establish a translational reading frame and therefore enable the synthesis of functional dystrophin. Alglucosidase alpha is used as an enzymatic replacement therapy for patients with Pompe disease. The therapy has demonstrated its largest impact in terms of improvement in cases of heart hypertrophy as well as survival rates in patients with infantile-onset disease, and in improving the ambulatory and respiratory status of patients with the late-onset Pompe disease. The goal of this paper is to review the genetic basis of certain neuromuscular diseases and their approved therapies.