Titre : | Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern |
Revue : | Muscle & Nerve, 52, 5 |
Auteurs : | Hankiewicz K ; Carlier RY ; Lazaro L ; Linzoain J ; Barnerias C ; Gomez-Andres D ; Avila-Smirnow D ; Ferreiro A ; Estournet B ; Guicheney P ; Germain DP ; Richard P ; Bulacio S ; Mompoint D ; Quijano Roy S |
Type de document : | Article |
Année de publication : | 11/2015 |
Pages : | p. 728-35 |
Langues: | Anglais |
Mots-clés : | cou ; cuisse ; diagnostic ; dystrophie musculaire congénitale ; étude observationnelle ; gène SELENON ; IRM corps entier ; muscle squelettique ; sélénoprotéine (maladie neuromusculaire liée à) |
Résumé : |
To delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM), we performed whole body MRI (WBMRI) in 9 patients using T1-weighted turbo spin echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5.
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. DISCUSSION: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogenous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases. |
Pubmed / DOI : | DOI : 10.1002/mus.24634 / Pubmed : 25808192 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/25808192 |
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