Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen.

Background: Ambulatory individuals with spinal muscular atrophy experience weakness and impairments of speed and endurance. This leads to decreased motor skill performance required for daily living including transitioning from floor to stand, climbing stairs, and traversing short and community distances. Motor function improvements have been reported in individuals receiving nusinersen, but changes in timed functional tests (TFTs) which assess shorter distance walking and transitions have not been well documented.

Utility of Repetitive Nerve Stimulation in Myopathies.

Investigators from the Mayo Clinic, Rochester, MN, evaluated 157 patients with confirmed myopathy who had electrodiagnostic studies done between January 2007 and May 2017.

Spinal Muscular Atrophy Diagnosed by Newborn Screening.

A panel of experts representing academic centers, family foundations and pharmaceutical industry came together to formulate a treatment algorithm for infants diagnosed via newborn screening (NBS) with Spinal muscular atrophy (SMA).

A polymorphic glucocorticoid receptor in a mouse population may explain inherited altered stress response and increased anxiety-type behaviors.

A polymorphic glucocorticoid receptor (GR(Qn)) with an expanded CAG track and two silent mutations, when compared with the sequence of other isoform (GR(wt)), is found in two outbred mouse lines that were produced by selection for high (SH) or low (SL) stress response from high or low heat loss lines of mice, respectively. The GR(Qn) allele, which is also found in 5 of 16 commonly used inbred mouse lines, had a much higher frequency in SL mice; the GR(wt/wt) was found only in the SH line. Both GR(Qn/Qn) and GR(wt/Qn) mice had a much weaker corticosterone response to stress than the GR(wt/wt) mice.