Scientific Publications

Quantitative MRI in lower limb muscles and heart of patients with limb-girdle muscular dystrophy type R9: preliminary results of a natural history study, H Reyngoudt (Institute of Myology) et al.

Myology 2022 Annual Meeting, Nice (France) on September 12-15, 2022

Background & Aim

  • Limb-girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive rare neuromuscular disorder caused by a mutation in the fukutin-related protein gene FKRP. Respiratory and cardiac involvement is common and can occur independently of skeletal muscle involvement. The disease is heterogeneous with age of onset, degree of severity and rate of progression, which was earlier confirmed by assessment of muscle fat fraction (FF) using quantitative magnetic resonance imaging (MRI).
  • Quantitative MRI-based outcome measures, including FF, water T2 and water T1 (which reflect disease activity mechanisms such as inflammation/edema/…) are used in many longitudinal studies in neuromuscular diseases. Besides skeletal muscle MRI, MRI-based cardiac outcome measures are also assesed in muscle diseases with cardiac involvement.
  • Here, we investigated preliminary MRI data in skeletal and cardiac muscle in the Généthon natural history study in LGMD R9.