Spinal muscular atrophy (SMA) is a prevalent neuromuscular disease caused by mutations in the SMN1 gene, leading to motor neuron degeneration. Recent research highlights the involvement of the neuromuscular junction (NMJ) in SMA, offering potential therapeutic targets. Disease-modifying treatments like Nusinersen, Risdiplam, and Onasemnogene Abeparvovec have shown efficacy, particularly when initiated early. The article reviews the pathogenesis of NMJ dysfunction in SMA, discusses circulating biomarkers, and explores therapeutic approaches targeting NMJ. It emphasizes the need for further research to assess NMJ involvement and optimize treatment strategies.

The article is a comprehensive review of the diagnosis and therapy of dystrophinopathies, which are inherited disorders affecting muscle function, primarily in boys. It covers the genetic basis of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), the role of serum creatine kinase (CK) in diagnosis, and the use of molecular techniques like multiplex PCR, MLPA, and next-generation sequencing for detecting mutations in the dystrophin gene. The review also discusses various therapeutic approaches, including corticosteroids, innovative steroids like vamorolone, and gene therapy strategies such as exon skipping drugs. It highlights the importance of a multidisciplinary approach to manage the disease's impact on multiple organs and the potential of gene editing to correct genetic mutations causing the disease.

The article discusses a study on patients with Hereditary Spastic Paraplegia (HSP), specifically SPG11-HSP, which is characterized by progressive spastic weakness of the lower limbs. The study aimed to analyze the phenotype of SPG11-HSP, including clinical, radiological, electrodiagnostic, and neuropsychologic features. It involved a retrospective review of six patients diagnosed with SPG11-HSP, focusing on symptoms such as pseudobulbar dysarthria, intellectual disability, bladder dysfunction, and being overweight. The study found that the rostral body and anterior midbody of the corpus callosum were preferentially thinned, especially in the early stages of the disease. The condition worsened over time, with increased periventricular white matter signal changes and motor evoked potential abnormalities. The study was supported by the Health Fellowship Foundation and a grant from the Chonnam National University Hospital Biomedical Research Institute.

The article is a narrative review that discusses the prevalence and impact of fatigue in chronic diseases, particularly neuromuscular disorders. It highlights the two dimensions of fatigue: performance fatigability and perceived fatigue, and the importance of distinguishing these features during patient examination. The review emphasizes the role of central and peripheral nervous system alterations, as well as metabolic and psychological components, in the manifestation of fatigue. It also addresses the development of scales and questionnaires to assess fatigue in relation to disease progression and treatment efficacy. The review covers the pathophysiology of fatigue in common neuromuscular diseases such as muscular dystrophies, metabolic and mitochondrial myopathies, and Spinal Muscular Atrophy (SMA), and discusses current management strategies for fatigue. The literature search for this review was conducted on PubMed without a systematic protocol, focusing on the most recent literature from the last decade.