Keywords: Muscle, Muscle, Carnosine, Myopathy, 1H-MR spectrsocopy
Motivation: Proximal Myotonic Myopathy (PROMM) causes progressive muscle atrophy, particularly affecting fast-twitch Type-2 fibers due to myotonia. Carnosine, essential for Type-2 fiber metabolism, declines with fiber atrophy, making it a potential marker for disease monitoring.
Goal(s): This pilot study aims to evaluate carnosine differences in the leg muscles of PROMM patients versus healthy controls using 1H-MR spectroscopy.
Approach: 1H-MR spectra were acquired from the left m. rectus femoris of nine PROMM patients and nine healthy controls, quantifying carnosine and other metabolites.
Results: PROMM patients exhibited significantly lower carnosine levels and increased extracellular lipids, correlating with muscle mass loss.
Impact: This study demonstrates 1H-MR spectroscopy’s potential for non-invasive monitoring of PROMM-related metabolic changes by tracking carnosine concentration declines in skeletal muscle. This approach allows early detection of atrophy, supporting personalized disease management and guiding therapeutic interventions.
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