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Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14.

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Author information

1
Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.
2
AP-HP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital R. Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.
3
Centre de Référence de Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Réseau National Français de la Filiére Neuromusculaire (FILNEMUS).
4
Université de Versailles-St Quentin, U1179 UVSQ - INSERM, Montigny, France.
5
Service de Pédiatrie, Centre Hospitalier Côte Basque, Pays Basque, France.
6
Instituto de Neurología Infanto Juvenil - Centro de estudio y tratamiento de epilepsia y sueño (CETES), Córdoba, Argentina.
7
AP-HP, Service de Neurologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France.
8
Servicio de Neurología Pediátrica del Hospital Universitario La Paz, TRADESMA, IdiPaz, Universidad Autónoma de Madrid, Madrid, España.
9
Unidad de Neurología, División de pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
10
Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
11
Inserm, U787 Myology group, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, UPMC, UMRS 787, Paris, France.
12
AP-HP, Centre de Référence des Maladies Neuromusculaires Paris-Est, Service de Neurologie, GH Pitie-Salpêtrière, Paris, France.
13
Sorbonne Universités, UPMC Universitaire Paris 06, INSERM UMR S1166, Paris, France.
14
University of Versailles - St Quentin en Yvelines, Division of Medical Genetics, U1179 UVSQ - INSERM, Montigny, France.
15
AP-HP, U. F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, G. H. Pitié-Salpêtriére, Inserm, UMRS 974, Paris, France.
16
Servicio de Resonancia Magnética Nuclear, Instituto Conci Carpinella, Córdoba, Argentina.

Abstract

INTRODUCTION:

The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM).

METHODS:

Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients.

RESULTS:

Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected.

CONCLUSIONS:

WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases.

KEYWORDS:

MRI; genetics; heatmap analysis; magnetic resonance imaging; myopathy; pediatrics

PMID:
25808192
DOI:
10.1002/mus.24634
[Indexed for MEDLINE]

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