Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

Tracey A Willis, Kieren G Hollingsworth, Anna Coombs, Marie-Louise Sveen, Soren Andersen, Tanya Stojkovic, Michelle Eagle, Anna Mayhew, Paulo Loureiro de Sousa, Liz Dewar, Jasper M Morrow, Christopher D J Sinclair, John S Thornton, Kate Bushby, Hanns Lochmuller, Michael G Hanna, Jean-Yves Hogrel, Pierre G Carlier, John Vissing, Volker Straub

79 Citations (Scopus)

Abstract

We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1-weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p<0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.

Original languageEnglish
JournalP L o S One
Volume9
Issue number2
Pages (from-to)e90377
ISSN1932-6203
DOIs
Publication statusPublished - 2014

Keywords

  • Adipose Tissue, White
  • Adolescent
  • Adult
  • Cross-Sectional Studies
  • Europe
  • Female
  • Humans
  • Image Processing, Computer-Assisted
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle, Skeletal
  • Muscular Dystrophies, Limb-Girdle
  • Mutation
  • Proteins
  • Sex Factors

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