MR quantification of muscle fatty replacement in McArdleʹs disease

McArdleʹs disease is an energy-dependant disorder of skeletal muscle caused by the inability to break down glycogen. The aim of this study was to quantify fatty replacement in patients with McArdleʹs disease. Calf and thigh axial spin echo T1-weighted magnetic resonance (MR) images (repetition time 500 ms, echo time 25 ms) were obtained at 0.5 T in nine patients with McArdleʹs disease (age 51 ± 16 years, range 26–74) and nine sex- and age-matched healthy subjects (age 52 ± 16 years, range 29–78) to quantify intramuscular fat. Regions of interest were drawn manually, encompassing the largest cross section of muscle. A fatty replacement index (IF) was determined from histograms of signal in the regions of interest in calf and thigh muscles. In normal subjects, IF = 3.6 ± 2.8% in calf and 4.9 ± 2.3% in thigh. In patients, IF = 11 ± 9.3% in calf and 13.5 ± 10.4% in thigh, significantly different from IF values in normal subjects (p = .03). IF correlated well with age in patients (p = .03). In older patients, up to 25% of the muscle volume was replaced by fat. Patients with McArdleʹs disease, usually weakly disabled, exhibit significant muscle fatty replacement on MR images. These findings suggest a progressive muscle loss over time related to the disease process.