Muscle MR imaging in tubular aggregate myopathy

PLoS One. 2014 Apr 10;9(4):e94427. doi: 10.1371/journal.pone.0094427. eCollection 2014.

Abstract

Purpose: To evaluate with Magnetic Resonance (MR) the degree of fatty replacement and edematous involvement in skeletal muscles in patients with Tubular Aggregate Myopathy (TAM). To asses the inter-observer agreement in evaluating muscle involvement and the symmetry index of fatty replacement.

Materials and methods: 13 patients were evaluated by MR to ascertain the degree of fatty replacement (T1W sequences) according to Mercuri's scale, and edema score (STIR sequences) according to extent and site.

Results: Fatty replacement mainly affects the posterior superficial compartment of the leg; the anterior compartment is generally spared. Edema was generally poor and almost only in the superficial compartment of the leg. The inter-observer agreement is very good with a Krippendorff's coefficient >0.9. Data show a total symmetry in the muscular replacement (McNemar-Bowker test with p = 1).

Conclusions: MR reveals characteristic muscular involvement, and is a reproducible technique for evaluation of TAM. There may also be a characteristic involvement of the long and short heads of the biceps femoris. It is useful for aimed biopsies, diagnostic hypotheses and evaluation of disease progression.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Disease Progression
  • Edema / complications
  • Edema / diagnosis
  • Edema / pathology*
  • Edema / physiopathology
  • Female
  • Humans
  • Leg
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology
  • Myopathies, Structural, Congenital / complications
  • Myopathies, Structural, Congenital / diagnosis
  • Myopathies, Structural, Congenital / pathology*
  • Myopathies, Structural, Congenital / physiopathology
  • Prognosis

Grants and funding

The authors have no support or funding to report.