In the March 2021, CADTH Canadian Drug Expert Committee recommended that onasemnogene abeparvovec be reimbursed for treatment of pediatric patients with 5q spinal muscular atrophy (SMA) biallelic mutations in survival motor neuron 1 (SMN1) gene, if certain conditions were met. A request was received to develop clinical criteria could used identify SMA older than 180 days who are most likely ben...

Spinal muscular atrophy (SMA) is a autosomal recessive disease characterized by weakness, hypotonia and atrophy. SMA caused mutation or deletion of the survivor motor neuron gene (SMN1), which located in telomere region chromosome 5q13. Incidence 1:6000-10000 newborn. Confirmatory diagnosis can be established molecular genetic analysis. Here 2- month- old female baby was admitted into departmen...

Spinal muscular atrophy is an inherited neurodegenerative illness characterized by muscle wasting and loss of spinal cord motor neurons. It results from homozygous loss, translation, or mutation the survival neuron 1 (SMN1) gene. Despite lack a cure, research has revealed potential processes explaining disease’s molecular etiology. The SMN1 gene region’s distinctive genomic structure been used ...

Spinal muscular atrophy (SMA) is an inborn neuromuscular disorder caused by low levels of survival motor neuron protein, and for which no efficient therapy exists. Here, we show that the slower rate of postnatal motor-unit maturation observed in type 2 SMA-like mice is correlated with the motor neuron death. Physical exercise delays motor neuron death and leads to an increase in the postnatal m...

The identification of noninvasive biomarkers to monitor the disease progression in spinal muscular atrophy (SMA) is becoming increasingly important. MicroRNAs (miRNAs) regulate gene expression and are implicated in the pathogenesis of neuromuscular diseases, including motor neuron degeneration. In this study, we selectively characterized the expression of miR-9, miR-206, and miR-132 in spinal c...

The loss and degeneration of spinal cord motor neurons result in muscle denervation in spinal muscular atrophy (SMA), but whether there are primary pathogenetic abnormalities of muscle in SMA is not known. We previously detected increased DNA fragmentation and downregulation of Bcl-2 and Bcl-X(L) expression but no morphological changes in spinal motor neurons of SMA fetuses. Here, we performed ...

Spinal muscular atrophy (SMA) is a genetic disorder characterized by loss of motor neurons in the spinal cord leading to muscle atrophy and death. Although motor neurons (MNs) are the most obviously affected cells in SMA, recent evidence suggest dysfunction in multiple cell types. Astrocytes are a crucial component of the motor circuit and are intimately involved with MN health and maintenance....

Spinal muscular atrophy (SMA) is a progressive, recessively inherited neuromuscular disease, characterized by the degeneration of lower motor neurons in the spinal cord and brainstem, which leads to weakness and muscle atrophy. SMA currently represents the most common genetic cause of infant death. SMA is caused by the lack of survival motor neuron (SMN) protein due to mutations, which are ofte...