Author Archives: Ana Pena, PhD

Surgery to treat scoliosis may permanently limit the ability of children with spinal muscle atrophy (SMA) type 2 and 3 to perform certain movements, with patients in better physical shape before such procedures experiencing a greater loss of motor skills afterward, a study found.

Loss of survival motor neuron (SMN) protein in muscles may contribute directly to the development of spinal muscular atrophy (SMA), in addition to its lack in motor neurons, an early study in mice suggested. Lowering SMN levels solely in muscle was seen to be enough to cause SMA-like symptoms…

Newborns diagnosed with spinal muscular atrophy (SMA) via newborn screening (NBS) and who carry four copies of the SMN2 gene should start treatment immediately, just as those with two or three SMN2 copies should, according to updated guidelines by a working group of SMA experts. The group…

Low levels of the survival motor neuron (SMN) protein — the major root cause of spinal muscular atrophy (SMA) — may lead to defects in the “skeleton” of cells,  which can affect cell growth and function, an early study in yeast suggests. In particular, one of the…

Muscle-specific microRNAs, small DNA-related molecules detectable in blood tests, may be biomarkers of disease progression and response to therapy in children with spinal muscular atrophy (SMA), a small study suggests. The levels of several muscle microRNAs (miRNAs) in children with SMA type 2 and type 3…

R-Roscovitine, a small molecule that promotes calcium entry in nerve cells, restored neuron-muscle communication, reduced the loss of motor neurons, and prolonged the survival of mice with spinal muscular atrophy (SMA), a study reports. The researchers said this molecule could be used to support other SMA…

Because babies with type 1 spinal muscular atrophy (SMA) develop serious swallowing problems at different ages, the decision to switch from oral to tube feeding should be tailored for each child, researchers in South Korea suggest. Their study, “Trajectory of change in the swallowing status in…

Spine surgery using magnetically controlled growing rods (MCGR) may be an option to correct spinal deformity, or scoliosis, in young children with spinal muscular atrophy (SMA) and avoid the need for repeated surgeries…

Combining Spinraza with low-dose panobinostat — the active substance in an approved treatment for a blood cancer — may amplify Spinraza’s effectiveness, increasing the production of  the survival motor neuron (SMN) protein whose lack is the underlying cause of spinal muscular atrophy (SMA), an early study in cell…

A type of magnetic resonance imaging (MRI) called diffusion tensor imaging (DTI) allows unique tracking of nerve fibers and could be used to detail changes in the spinal nerve fibers of people with spinal muscular atrophy (SMA), a study reports. DTI could offer new insights into SMA…