Article type: Research Article
Authors: Rodriguez-Torres, Rafaela; 1 | Fabiano, Juliaa; 1 | Goodwin, Ashleya | Rao, Ashwini K.a; c | Kinirons, Stacya | De Vivo, Darrylb | Montes, Jacquelinea; b; *
[a] Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA
[b] Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA
[c] G.H. Sergievsky Center, Columbia University Irving Medical Center, New York, NY, USA
Correspondence to: Jacqueline Montes, PT, EdD, Associate Professor of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, Programs in Physical Therapy, Georgian Building, 617 West 168th Street, New York, NY 10032, 3rd Floor, USA. Tel.: +1 212 305 8916; E-mail: [email protected].
Note:  Authors contributed equally.
Abstract: Background:Individuals with spinal muscular atrophy (SMA) III walk independently, but experience muscle weakness, gait impairments, and fatigue. Although SMA affects proximal more than distal muscles, the characteristic pattern of selective muscle weakness has not been explained. Two theories have been proposed: 1) location of spinal motor neurons; and 2) differences in segmental innervation. Objective:To identify neuroanatomical models that explain the selective muscle weakness in individuals with SMA and assess the relationship of these models to ambulatory function. Methods:Data from 23 ambulatory SMA participants (78.2% male), ages 10–56 years, enrolled in two clinical studies (NCT01166022, NCT02895789) were included. Strength was assessed using the Medical Research Council (MRC) score; ambulatory function was measured by distance walked on the 6-minute walk test (6 MWT). Three models were identified, and relationships assessed using Pearson correlation coefficients and linear regression. Results:All models demonstrated a positive association between strength and function, (p < 0.02). Linear regression revealed that Model 3B, consisting of muscles innervated by lower lumbar and sacral segments, explained 67% of the variability observed in 6 MWT performance (β= 0.670, p = 0.003). Conclusions:Muscles innervated by lower lumbar and sacral segments, i.e. hip extensors, hip abductors, knee flexors and ankle dorsiflexors, correlated with and predicted greater ambulatory function. The neuroanatomical patterns of muscle weakness may contribute to a better understanding of disease mechanisms and enable delivery of targeted therapies.
Keywords: Spinal muscular atrophy, walking, muscle weakness, walk test, strength
Journal: Journal of Neuromuscular Diseases, vol. 7, no. 4, pp. 459-466, 2020
Published: 18 September 2020