Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment.

Spinal muscular atrophy (SMA) is a genetic condition characterized by progressive motoneuron loss. Infants affected by SMA type 1 do not gain developmental milestones and acutely decline, requiring ventilatory support. Several scales are used to assess motor disability and its progression in SMA. Recently, 3 disease-modifying therapies have been approved for SMA patients: nusinersen, an intrathecal antisense oligonucleotide enhancing SMN protein production by the SMN2 gene, risdiplam, also influencing the SMN2 gene to stimulate SMN production but administered orally, and onasemnogene abeparvovec-xioi, an SMN1 gene replacement therapy. Thus, the functional scales should now be applicable for patients improving their motor function over time to assess treatment efficacy. In this paper, we compare different functional scales used in SMA patients. Their usefulness in different SMA types, age groups, and feasibility in daily clinical practice is described below. Some changes in motor function assessments in SMA are also suggested.

[Impact of low level laser therapy on skin blood flow]. / Wplyw niskoenergetycznej laseroterapiina skorny przeplyw krwi.

UNLABELLED: The aim of this study was to objectively assess the impact of low level laser therapy on skin blood flow, in terms of two of its components - the flow and trophic and therapeutic effect. MATERIAL AND METHODS: Nineteen children aged 3-15 years have been included in the study (seven boys and twelve girls) with a diagnosis of meningomyelocele in the lumbosacral area. In nine of them (47.3%) bedsores were found in the area of paresis location. Studies of skin blood flow were performed using xenon 133 clearance in the Department of Nuclear Medicine of the Children's Memorial Health Institute. Xenon 133 radioisotope in saline with intrinsic activity 74 MBq in 1 ml was used as the marker. Laser application was performed immediately prior to the application of the marker with a tag shower 60 mW probe, emitting 680 nm red light with surface power density of 0.5 J/cm2. RESULTS: Within the tested children the laser application resulted in a significantly increased skin blood flow. Average results in tested group before LLLT are 7.47 ml/100 g/min, after LLLT 11.08 ml/100 g/min. CONCLUSIONS: 1. LLLT significantly increases the perfusion of the skin. 2. The effect of the increased perfusion as the result of laserotherapy in the most evident in children with skin trophic abnormalities. 3. Results confirmed by clinical observation indicate, that perfusion increase in relation to LLLT takes place with participation of trophic component of skin blood circulation.