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Investigating and following the motor function in children with SMA is challenging. In this issue of Neuromuscular Disorders , Perumal et al. (2023) describes how the smartphone sensor can be used to assess the respiratory and upper limb function in comparison to physical outcome measures currently in use. Eight out of nine items were closely in accord. [ABSTRACT FROM AUTHOR]

Proximal spinal muscular atrophy (SMA) is an inherited neurodegenerative disease with a heterogeneous clinical phenotype. Although there is no cure for SMA, several strategies are currently being developed. In this review, we summarize the ongoing clinical trials and molecular mechanisms of successful approaches to SMA treatment. [ABSTRACT FROM AUTHOR]

Exercise studies in neuromuscular diseases like spinal muscular atrophy (SMA), a devastating disease caused by survival of motor neuron 1 (SMN1) gene mutations, are drawing attention due to its beneficial effects. In this study, we presented a constructed arm cycling exercise protocol and evaluated the benefits on SMA patients. Five SMA type II patients performed 12 weeks of supervised arm cycling exercise. The physical functions were evaluated together with the SMN2 copy numbers, SMN protein levels, insulin-like growth factor 1(IGF1) and binding protein 3 (IGFBP3) levels. The active cycling distance and duration of patients significantly improved. Significant changes could not have detected either SMN or IGF1 and IGFBP3 levels in response to exercise. The findings demonstrated that the patients tolerated the exercise protocol and gained a benefit from arm cycling but benefits could not be associated with SMN2 copy number, SMN protein level, IGF1, or IGFBP3 levels. [ABSTRACT FROM AUTHOR]

Aim: In this preliminary study, we aimed to analyze the effect of sodium butyrate (NB) and phenylbutyrate (PB), belonging to the class of histone deacetylase (HDAC) inhibitors, on lymphoblastoid cell lines established from spinal muscular atrophy (SMA) patients. Materials and Methods: Lymphoblastoid cell lines were established from one type I and two type III SMA patients. Following treatment of the cell lines by HDAC inhibitors, the levels of survival motor neuron 2 (SMN2) gene full length (fl-SMN2) transcripts were assessed by both standard and real time RT-PCR. To determine the levels of SMN protein, Western blot analysis was performed. Results: NB and PB, which are known to be effective in SMA fibroblasts, did not increase the levels of fl-SMN2 transcripts or protein in lymphoblastoid cell lines. Conclusions: Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines may not be suitable for studying the effect of at least some HDAC inhibitors on SMN2 gene expression. [ABSTRACT FROM AUTHOR]

While there are limited studies focusing on sleep quality of family caregivers of children with Spinal Muscular Atrophy (SMA), there are no studies on daytime sleepiness in SMA. This study aimed a) to compare the sleep quality and daytime sleepiness between caregivers of children with SMA and those of healthy peers and b) to investigate the sleep quality and daytime sleepiness of family caregivers of children with different types of SMA. This study included 30 family caregivers of children with SMA (SMA Type 1:12, SMA Type 2:10, and SMA Type 3:8) and 31 family caregivers of healthy peers. Sleep quality and daytime sleepiness of family caregivers were evaluated using the Pittsburg Sleep Quality Index (PSQI) and the Epworth Sleepiness Scale (EPS), consecutively. Demographic characteristics of children with SMA and healthy peers were similar (p > 0.05). The mean ages of family caregivers of children with SMA and healthy peers were 36.07 ± 5.84 and 35.26 ± 5.02 years, respectively (p = 0.6). The PSQI scores of family caregivers of children with SMA (7.50 ± 3.90 points) were lower than those of healthy peers (4.09 ± 1.97 points) (p < 0.001). There was no difference in PSQI scores between SMA types (p = 0.8). Also, no difference was found between SMA types and between SMA and healthy peers in terms of EPS (p > 0.05). Family caregivers of children with SMA had poor sleep quality but similar daytime sleepiness compared with those of healthy peers. Among SMA types, family caregivers had similar sleep quality and daytime sleepiness. It was demonstrated that the sleep quality of family caregivers should be taken into consideration in the disease management of SMA. • The sleep quality of family caregivers of children with SMA is poor. • The family caregivers of children with different types of SMA had similar sleep quality. • The family caregivers of both children with SMA and healthy peers have normal daytime sleepiness. [ABSTRACT FROM AUTHOR]

• Treatment of SMA within the first days of life may result in essentially normal outcome. • Early diagnosis of SMA is mandatory for the outcome of treatment. New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome. [ABSTRACT FROM AUTHOR]