Spinal Muscular Atrophy (SMA) is a hereditary childhood disease that causes paralysis by progressive degeneration of skeletal muscles and spinal motor neurons. SMA is associated with reduced levels of full-length Survival of Motor Neuron (SMN) protein, due to mutations in the Survival of Motor Neuron 1 gene. The mechanisms by which lack of SMN causes SMA pathology are not known, making it very ...

Myofiber wasting in muscular dystrophy has largely been ascribed to necrotic cell death, despite reports identifying apoptotic markers in dystrophic muscle. Here we set out to identify the contribution of canonical apoptotic pathways to skeletal muscle degeneration in muscular dystrophy by genetically deleting a known inhibitor of apoptosis, apoptosis repressor with a card domain (Arc), in dyst...

The current view that death of dystrophin-deficient muscle fibers is a necrotic process relies primarily upon the histological appearance of the tissue after the degenerative process is well advanced. Here, we tested this view by examining the possibility that apoptosis is a component of dystrophin-deficient muscle cell death. Three assays for apoptosis were employed in analyzing prenecrotic, p...

Duchenne muscular dystrophy (DMD) is a lethal muscle disease involving progressive loss of muscle regenerative capacity and increased fibrosis. We tested whether epigenetic silencing of the klotho gene occurs in the mdx mouse model of DMD and whether klotho silencing is an important feature of the disease. Our findings show that klotho undergoes muscle-specific silencing at the acute onset of m...

As one of the many causes groin pain, iliopsoas tendinitis can be hard to identify and even harder treat. It occurs in setting both native hip joint following total arthroplasty. Internal snapping, or coxa saltans, result from snapping over anterior capsule iliopectineal eminence a source labral pathology. The painful painless. Iliopsoas impingement components either cup collar femoral stem are...

The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present case with progressive muscle weakness who diagnosed ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted motor cortex, hippocampus anterior horns...

INTRODUCTION The clinical application of upper limb (UL) three-dimensional movement analysis (3DMA) in children with unilateral cerebral palsy (uCP) remains challenging, despite its benefits compared to conventional clinical scales. Moreover, knowledge on UL movement pathology and how this relates to clinical parameters remains scarce. Therefore, we investigated UL kinematics across different m...