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Review
. 2021 Apr 27:8:2329048X211008725.
doi: 10.1177/2329048X211008725. eCollection 2021 Jan-Dec.

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

Katarzyna Pierzchlewicz  1 , Izabela Kępa  1 , Jacek Podogrodzki  1 , Katarzyna Kotulska  1
Affiliations
Review

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

Katarzyna Pierzchlewicz et al. Child Neurol Open. .

Abstract

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.

Keywords: disability; functional scale; spinal muscular atrophy; treatment.

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Conflict of interest statement

Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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