Quantification of disease progression in spinal muscular atrophy with muscle MRI—a pilot study

Objectives Quantitative MRI (qMRI) of muscles is a promising tool to measure disease progression or to assess therapeutic effects in neuromuscular diseases. Longitudinal imaging studies are needed to show sensitivity of qMRI in detecting disease progression in spinal muscular atrophy (SMA). In this pilot study we therefore studied one‐year changes in quantitative MR parameters in relation to clinical scores. Methods We repeated quantitative 3 T MR analysis of thigh muscles and clinical testing one year after baseline in 10 treatment‐naïve patients with SMA, 5 with Type 2 (21.6 ± 7.0 years) and 5 with Type 3 (33.4 ± 11.9 years). MR protocol consisted of Dixon, T2 mapping and diffusion tensor imaging (DTI). The temporal relation of parameters was examined with a mixed model. Results We detected a significant increase in fat fraction (baseline, 38.2% SE 0.6; follow‐up, 39.5% SE 0.6; +1.3%, p = 0.001) in all muscles. Muscles with moderate to high fat infiltration at baseline show a larger increase over time (+1.6%, p < 0.001). We did not find any changes in DTI parameters except for low fat‐infiltration muscles (m. adductor longus and m. biceps femoris (short head)). The T2 of muscles decreased from 28.2 ms to 28.0 ms (p = 0.07). Muscle strength and motor function scores were not significantly different between follow‐up and baseline. Conclusion Longitudinal imaging data show slow disease progression in skeletal muscle of the thigh of (young‐) adult patients with SMA despite stable strength and motor function scores. Quantitative muscle imaging demonstrates potential as a biomarker for disease activity and monitoring of therapy response. Quantitative 3T MRI of thigh muscle in spinal muscular atrophy patients detected a significant increase in fat fraction and decrease in T2 over the course of one year. We did not find any changes in the DTI parameters MD and FA except for low fat‐infiltration muscles (m. adductor longus and m. biceps femoris (short head)). Muscle strength and motor function scores remained stable. Quantitative muscle MRI demonstrates potential as a biomarker for disease activity and monitoring of therapy response.