Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

Deconinck, N.; Dion, E.; Yaou, R. Ben; Ferreiro, A.; Eymard, B.; Briñas, L.; Payan, C.; Voit, T.; Guicheney, P.; Richard, P.; Allamand, V.; Bonne, G.; Stojkovic, T.

doi:10.1016/j.nmd.2010.04.009

« Previous Next »Neuromuscular Disorders
Volume 20, Issue 8 , Pages 517-523, August 2010

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

N. Deconinck
- Clinique de Neurologie, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Bruxelles, Belgium
- Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
- Corresponding author at: Department of Neurology, HUDERF, Av. J.J. Crocq 15, 1020 Brussels, Belgium. Tel.: +32 2 477 31 74; fax: +32 2 477 23 50.
E. Dion
- Imagerie médicale, AP-HP Hôpital Louis Mourier, Colombes, Université Paris VII Denis Diderot, France
R. Ben Yaou
- Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
- UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
- CNRS, UMR7215, Paris F-75013, France
- Inserm, U974, Paris F-75013, France
A. Ferreiro
- Inserm, U787 Groupe Myologie, Groupe Hopsitalier Pitié-Salpêtrière, Paris, France
- UPMC Univ Paris 06, UMR_S787, Institut de Myologie, IFR14, Paris F-75013, France
- AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Centre de référence neuromusculaire, Paris Est, Pitié, Paris, France
- AP-HP, Hôpital Raymond Poincaré, Service de Pédiatrie, Centre de, Référence des Maladies Neuromusculaies GNMH, 92380 Garches, France
B. Eymard
- Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
- AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Centre de référence neuromusculaire, Paris Est, Pitié, Paris, France
L. Briñas
- UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
- CNRS, UMR7215, Paris F-75013, France
- Inserm, U974, Paris F-75013, France
C. Payan
- Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
T. Voit
- Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
- UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
- CNRS, UMR7215, Paris F-75013, France
- Inserm, U974, Paris F-75013, France
P. Guicheney
- Inserm-UPMC UMR S956, Génétique, Pharmacologie et Physiopathologie des Maladies Cardiovasculaires, Groupe Hopsitalier Pitié-Salpêtrière, Paris, France
- UPMC Univ Paris 06, UMR_S956, IFR14, Paris F-75013, France
P. Richard
- Inserm-UPMC UMR S956, Génétique, Pharmacologie et Physiopathologie des Maladies Cardiovasculaires, Groupe Hopsitalier Pitié-Salpêtrière, Paris, France
- UPMC Univ Paris 06, UMR_S956, IFR14, Paris F-75013, France
- AP-HP, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris F-75013, France
V. Allamand
- UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
- CNRS, UMR7215, Paris F-75013, France
- Inserm, U974, Paris F-75013, France
G. Bonne
- UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
- CNRS, UMR7215, Paris F-75013, France
- Inserm, U974, Paris F-75013, France
- AP-HP, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris F-75013, France
T. Stojkovic
- AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Centre de référence neuromusculaire, Paris Est, Pitié, Paris, France

Received 10 October 2009; received in revised form 23 February 2010; accepted 8 April 2010.

Abstract

Bethlem myopathy and Ullrich congenital muscular dystrophy are part of the heterogeneous group of collagen VI-related muscle disorders. They are caused by mutations in collagen VI (ColVI) genes (COL6A1, COL6A2, and COL6A3) while LMNA mutations cause autosomal dominant Emery-Dreifuss muscular dystrophy. A muscular dystrophy pattern and contractures are found in all three conditions, making differential diagnosis difficult especially in young patients when cardiomyopathy is absent.

We retrospectively assessed upper and lower limb muscle CT scans in 14 Bethlem/Ullrich patients and 13 Emery-Dreifuss patients with identified mutations.

CT was able to differentiate Emery-Dreifuss muscular dystrophy from ColVI-related myopathies in selected thigh muscles and to a lesser extent calves muscles: rectus femoris fatty infiltration was selectively present in Bethlem/Ullrich patients while posterior thigh muscles infiltration was more prominently found in Emery-Dreifuss patients. A more severe fatty infiltration particularly in the leg posterior compartment was found in the Emery-Dreifuss group.

Keywords: EDMD2, LMNA, COL VI, CT scanner