Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease, characterized by decreased amounts of survival motor neuron (SMN) protein, due to an autosomal recessive genetic defect. Despite recent research, there is still no cure. Nusinersen, an antisense oligonucleotide acting on the SMN2 gene, is intrathecally administered all life long, while onasemnogene abeparvovec-xioi, a gene therapy, is administered intravenously only once. Both therapies have proven efficacy, with best outcomes obtained when administered presymptomatically. In recent years, disease-modifying therapies such as nusinersen and onasemnogene abeparvovec-xioi have changed the natural history of SMA. Methods: We observed seven SMA type I patients, who received both therapies. We compared their motor function trajectories, ventilation hours and cough assist sessions to a control group of patients who received one therapy, in order to investigate whether combination therapy may be more effective than a single intervention alone. Results: Patients who received both therapies, compared to the monotherapy cohort, had the same motor function trajectory. Moreover, it was observed that the evolution of motor function was better in the 6 months following the first therapy than in the first 6 months after adding the second treatment. Conclusions: Our results suggest that early treatment is more important than combined therapy.

In the new therapeutic era, disease-modifying treatment (nusinersen) has changed the natural evolution of spinal muscular atrophy (SMA), creating new phenotypes. The main purpose of the retrospective observational study was to explore changes in clinical evolution and electrophysiological data after 2 years of nusinersen treatment. We assessed distal compound motor action potential (CMAP) on the ulnar nerve and motor abilities in 34 SMA patients, aged between 1 and 16 years old, under nusinersen treatment, using specific motor scales for types 1, 2 and 3. The evaluations were performed at treatment initiation and 26 months later. There were registered increased values for CMAP amplitudes after 2 years of nusinersen, significantly correlated with motor function evolution in SMA type 1 patients (p < 0.005, r = 0.667). In total, 45% of non-sitters became sitters and 25% of sitters became walkers. For SMA types 1 and 2, the age at the treatment initialization is highly significant (p < 0.0001) and correlated with treatment yield. A strong negative correlation (r = −0.633) was observed for SMA type 1 and a very strong negative correlation (r = −0.813) for SMA type 2. In treated SMA cases, the distal amplitude of the CMAP and motor functional scales are important prognostic factors, and early diagnosis and treatment are essential for a better outcome.

Aim: This research aims to determine whether the time of injury (congenital or acquired) affects the quality of life (QOL) in families having a child or adolescent with neurological impairment. Design: Comparative, cross-sectional study. Material and methods: To find out if there are differences in the quality of life domains between these two groups, 66 subjects (31 mothers of patients with congenital disorders and 35 mothers of patients with acquired disorders) completed the PedsQL-Family Impact Module (PedsQL-FIM), the World Health Organization Quality of Life Instrument—Short Form (WHOQOL-BRIEF), and the Cognitive Emotion Regulation Questionnaire (CERQ). Results: Analyzing the PedsQL-FIM dimensions, we found significant differences between groups in terms of emotional functioning, communication, and worry, which favor the congenital group. There are no statistically significant differences between social functioning, cognitive functioning, and daily activities groups. No significant differences between groups when evaluating the WHOQOL-BRIEF’s domains (physical health, psychological health, social relationships, environment) have been found. According to CERQ results, adaptive strategies had higher mean scores in the congenital than in the acquired group. The mean score for maladaptive strategies in the congenital group is higher than that in the acquired one, except for catastrophizing, which is higher for acquired. Conclusion: Our findings show that the mothers of patients with acquired neuropathology have a lower quality of life in the emotional functioning, communication, and worry domains.

Background and aim: The early identification of the former premature neonates at risk of neurologic sequelae could lead to early intervention and a better prognosis. This pilot study aimed to investigate whether the General Movement patterns observed at term-equivalent age in former premature infants could serve as predictors for guiding early intervention and improving prognosis. Materials and methods: In a population of 44 premature neonates (mean gestational age 33.59 weeks (+2.43 weeks)) examined at term-equivalent age, 10 neonates with a cramped–synchronized General Movements motor pattern were identified. These neonates were included in an early intervention program consisting of physiotherapy executed both by the therapist and by the parents at home. They were again examined at a corrected age of 12 weeks. The presence or absence of fidgety movements and the MOS-R (motor optimality score revised) was noted. The examinations were performed by certified specialists. Results: Normal fidgety movements and a MOS-R of 20–24 were presented in 9/10 of the former premature infants, with normal foot to foot contact present in 7/10, and normal hand to hand contact present in 5/10. The atypical patterns noted were side to side movements of the head in 5/10, a non-centered head in 9/10, asymmetric tonic neck reflex in 9/10 and jerky movements in 10/10. One patient presented with no fidgety movements and a MOS-R score of 9. Conclusion: Early intervention in our group of patients allowed for an improvement in the neurologic status, demonstrated by the presence of fidgety movements. We suggest that early intervention should be indicated in all premature infants that present with a cramped–synchronized GM pattern during examination at term-equivalent age. However, due to the small sample size, the absence of statistical analysis and a control group, and the limited follow-up period, the conclusions must be approached with caution.

Background: Sarcopenia, which has traditionally been considered to be an exclusively geriatric syndrome, has an increased frequency within the general population and fosters interest in its complex neuromuscular, cardiovascular, and metabolic basis. The current systematic review, adopting the recognized Preferred Reporting Items for Systematic Reviews (PRISMA) methodology, seeks to highlight current evidence on the underlying mechanisms as well as approaches to sarcopenia diagnosis and management. Methods: A comprehensive search of major international databases identified studies published between January 2023 and December 2024, from which 42 articles were retained according to prespecified criteria. To further enrich the present work, eleven additional studies of high relevance were included. Results: The selected literature describes sarcopenia’s multifactorial pathophysiology, including mitochondrial dysfunction, neuromuscular junction (NMJ) degeneration, chronic inflammation, anabolic resistance, endocrine and metabolic dysregulation, altered motor-unit remodeling, and molecular alterations. Diagnostic methods focus on functional assessments, especially muscle strength and physical performance. In addition, imaging techniques and new circulating biomarkers enhance precision in specific situations. Over the years, rehabilitation has proven to be one of the most effective therapeutic approaches. Complementary strategies, ranging from nutritional optimization to pharmacologic modulation of the renin–angiotensin system, show promise in specific patient subsets. Discussion and Conclusions: As supported by the works collected within the current study, future approaches will need to consider sarcopenia as a multifactorial disease that goes beyond aging.

Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor neurons with subsequent muscle weakness and atrophy. More than 95% of the cases of SMA are represented by homozygous mutations of the SMN1 gene (5q-SMA). Because this disease represents the leading cause of death due to a genetic cause and due to the availability of genetic therapies which can now save the life of the patient and stop the progress of the disease, early diagnosis is crucial. This report presents the case of a 13-year-old patient admitted to our hospital in 2018 who presented a phenotype typical to 5q-SMA. Next-generation sequencing (NGS) and Sanger sequencing of the SMN1 gene were performed, and a negative result was obtained. Consequently, we continued testing using whole-exome sequencing and discovered three mutations in the ASAH1 gene (one pathogenic and two variants of uncertain significance). Pathogenic mutations in the ASAH1 gene are responsible for spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and Farber disease, which overlapped with our patient’s phenotype. Currently, there are 45 SMA cases caused by mutations in the ASAH1 gene reported worldwide; however, the present case is the first reported in Romania.