Characteristic findings of skeletal muscle MRI in childhood-onset Rippling muscle disease


Rippling muscle disease (RMD), a rare disorder caused by mutations in CAV3, which also produce several phenotypes including limb-girdle muscular dystrophy type 1C and distal myopathy. Patients with RMD suffer from slight muscle stiffness and soreness, and show unique abnormal muscle contractions evoked by percussion, called rippling or mounding. Herein, we present characteristic findings of skeletal muscle MRI in four patients from two families with RMD. Patient1 is a 28-year- old woman. At around age 5 years, it was noticed that she fell easily.


Leave A Reply