Winged scapula in patients with myotonic dystrophy type 1.
We report two patients with myotonic dystrophy type 1 (DM1) showing winged scapula in a single family. Genomic analysis revealed a marked expansion of CTG repeats in the 3' untranslated region; 1100 in patient 1 and 667 in patient 2. Muscle MRI revealed marked atrophy in the serratus anterior muscle in both patients. Muscle biopsy findings showed central nuclei and variations in fiber size. One of the patients showed ragged red fibers in muscles of the biceps brachii. To our knowledge, this is the first report of typical winged scapula in DM1.
Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Eiheiji-cho, Fukui, Japan. hamano@u-fukui.ac.jp
Tadanori
T
Hamano
Tatsuro
T
Mutoh
Mikio
M
Hirayama
Hidemasa
H
Uematsu
Itsuro
I
Higuchi
Hiroshi
H
Koga
Fujio
F
Umehara
Kiyonobu
K
Komai
Masaru
M
Kuriyama
D000328:Adult; D001284:Atrophy; D001706:Biopsy; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000473:pathology*; D012540:Scapula / Q000473:pathology*