Muscle MRI in female carriers of dystrophinopathy

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Giorgio TascaE Ricci

Abstract

Duchenne muscular dystrophy carriers represent a rare condition that needs to be recognized because of the possible implications for prenatal diagnosis. Muscle biopsy is currently the diagnostic instrument of choice in sporadic patients. We wanted to verify whether muscle magnetic resonance imaging (MRI) could identify a pattern of involvement suggestive of this condition and whether it was similar to that reported in Duchenne and Becker muscular dystrophy. Evaluation of pelvic and lower limb MRI scans of 12 dystrophinopathy carriers was performed. We found a frequent involvement of the quadratus femoris, gluteus maximus and medius, biceps femoris long head, adductor magnus, vasti and paraspinal muscles, whilst the popliteus, iliopsoas, recti abdominis, sartorius, and gracilis were relatively spared. Asymmetry was a major feature on MRI; it could be detected significantly more often than with sole clinical examination and even in patients without weakness. The pattern we describe here is similar to that reported in Duchenne and Becker muscular dystrophy, although asymmetry represents a major distinctive feature. Muscle MRI was more sensitive than clinical examination for detecting single muscle involvement and asymmetry. Furthe...Continue Reading

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Citations

Jun 17, 2014·PloS One·Giorgio TascaEnzo Ricci
Dec 17, 2015·Brain : a Journal of Neurology·Nanna WittingJohn Vissing
Aug 11, 2015·Neuromuscular Disorders : NMD·Giorgio TascaEnrico Bertini
Oct 15, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·N CarboniM G Marrosu
Jan 18, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A H V Schapira
Feb 10, 2017·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Ana CottaAntonio Pedro Vargas
Jan 24, 2017·Neuropathology and Applied Neurobiology·H Jungbluth
Nov 24, 2017·Scientific Reports·Andrea BarpElena Pegoraro
Sep 11, 2017·Journal of Neurology, Neurosurgery, and Psychiatry·Giorgio TascaClaudio Bruno
May 30, 2015·Journal of Clinical Neurology·Seung Ha LeeYoung Chul Choi
Sep 22, 2019·Neurology·Benjamin T CocanougherA Reghan Foley
May 21, 2021·Neurology. Neuroimmunology and Neuroinflammation·Matteo LucchiniGiorgio Tasca
Jun 8, 2021·Frontiers in Neurology·Aisha M SheikhJohn Vissing

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