Muscle MRI in inherited neuromuscular disorders: past, present, and future.
Interest in muscle MRI has been largely stimulated in the last few years by the recognition of an increasing number of genetic defects in the field of inherited neuromuscular disorders. Muscle ultrasound (US) and computed tomography (CT) have been used to detect the presence of muscle involvement in patients affected by these disorders, but until recently the use of muscle MRI has been, with a few exceptions, limited to detecting inflammatory forms. The aim of this review is to illustrate how muscle MRI, in combination with clinical evaluation, can contribute to the selection of appropriate genetic tests and more generally in the differential diagnosis of genetically distinct forms of neuromuscular disorders. Possible future applications of muscle MRI are also discussed.
Mercuri
Eugenio
E
Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy. e.mercuri@ic.ac.uk
Pichiecchio
Anna
A
Allsop
Joanna
J
Messina
Sonia
S
Pane
Marika
M
Muntoni
Francesco
F
D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000266:history / Q000379:methods* / Q000639:trends; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology