Quote
J. Forsting et al., “Quantitative muscle magnetic resonance imaging in limb-girdle muscular dystrophy type R1 (LGMDR1),” NMR in Biomedicine, vol. 37, no. 10, 2024, doi: 10.1002/nbm.5172
Content
<p>Limb-girdle muscular dystrophy (LGMD) type R1 (LGMDR1) is the most common subtype of LGMD in Europe. Prospective longitudinal data, including clinical assessments and new biomarkers such as quantitative magnetic resonance imaging (qMRI), are needed to evaluate the natural course of the disease and therapeutic options. We evaluated eight thigh and seven leg muscles of 13 LGMDR1 patients (seven females, mean age 36.7 years, body mass index 23.9 kg/m²) and 13 healthy age- and gender-matched controls in a prospective longitudinal study over 1 year. Clinical assessment included testing for muscle strength using the Quick Motor Function Measure (QMFM), gait analysis, and patient questionnaires (neuromuscular symptom score, activity limitation [ACTIVLIM]). MRI scans were performed on a 3-T MRI scanner, including a Dixon-based sequence, T2 mapping, and diffusion tensor imaging. The qMRI values for fat fraction (FF), water T2 relaxation time (T2), fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity were analyzed. Among the clinical outcome measures, significant deterioration was observed between baseline and follow-up for ACTIVLIM (p = 0.029) and QMFM (p = 0.012). Analysis of qMRI parameters in the patient group revealed differences between time points for both FF and T2 when analyzing all muscles (FF: p < 0.001; T2: p = 0.016). The greatest increase in fat replacement was observed in muscles with an FF between 10% and 50% at baseline. T2 values in muscles with low fat replacement increased significantly. No significant differences were found for the diffusion metrics. Significant correlations between qMRI metrics and clinical assessments were found at baseline and follow-up, while only changes in T2 in thigh muscles correlated with changes in ACTIVLIM over time (ρ = -0.621, p < 0.05). Clinical assessments can indicate a deterioration in the general condition of LGMDR1 patients. qMRI measures can provide additional information about the underlying pathophysiology. Further research is needed to establish qMRI outcome measures for clinical trials.</p>
References and Relationships
DOI 10.1002/nbm.5172
PMID 38794994
Scopus ID 2-s2.0-85194288692
WoSID 001230752500001
ORCID Source bibliographie.ub.rub.de/work/390903