A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging

Background Laing myopathy is characterized by broad clinical and pathological variability. They are limited in number and protocol of study. We aimed to delineate muscle imaging profiles and validate imaging analysis as an outcome measure. Methods This was a cross‐sectional and longitudinal cohort study. Data from clinical, functional and semi‐quantitative muscle imaging (60 magnetic resonance imaging [MRI] and six computed tomography scans) were studied. Hierarchical analysis, graphic heatmap representation and correlation between imaging and clinical data using Bayesian statistics were carried out. Results The study cohort comprised 42 patients from 13 families harbouring five MYH7 mutations. The cohort had a wide range of ages, age at onset, disease duration, and myopathy extension and Gardner‐Medwin and Walton (GMW) functional scores. Intramuscular fat was evident in all but two asymptomatic/pauci‐symptomatic patients. Anterior leg compartment muscles were the only affected muscles in 12% of the patients. Widespread extension to the thigh, hip, paravertebral and calf muscles and, less frequently, the scapulohumeral muscles was commonly observed, depicting distinct patterns and rates of progression. Foot muscles were involved in 40% of patients, evolving in parallel to other regions with absence of a disto‐proximal gradient. Whole cumulative imaging score, ranging from 0 to 2.9 out of 4, was associated with disease duration and with myopathy extension and GMW scales. Follow‐up MRI studies in 24 patients showed significant score progression at a variable rate. Conclusions We confirmed that the anterior leg compartment is systematically affected in Laing myopathy and may represent the only manifestation of this disorder. However, widespread muscle involvement in preferential but variable and not distance‐dependent patterns was frequently observed. Imaging score analysis is useful to categorize patients and to follow disease progression over time. Phenotypic variability and disease progression were studied in 42 patients with Laing myopathy through the evaluation of muscle imaging and their correlation with clinical and functional data. A systematic affectation of the anterior leg compartment muscles is confirmed, representing the only manifestation in 12%. However, widespread muscle involvement in a not disto‐proximal pattern is frequently observed. The whole cumulative imaging score is associated with disease duration and myopathy extension and functiona