title: Neuromuscular imaging in inherited muscle diseases.
abstract: Driven by increasing numbers of newly identified genetic defects and new insights into the field of inherited muscle diseases, neuromuscular imaging in general and magnetic resonance imaging (MRI) in particular are increasingly being used to characterise the severity and pattern of muscle involvement. Although muscle biopsy is still the gold standard for the establishment of the definitive diagnosis, muscular imaging is an important diagnostic tool for the detection and quantification of dystrophic changes during the clinical workup of patients with hereditary muscle diseases. MRI is frequently used to describe muscle involvement patterns, which aids in narrowing of the differential diagnosis and distinguishing between dystrophic and non-dystrophic diseases. Recent work has demonstrated the usefulness of muscle imaging for the detection of specific congenital myopathies, mainly for the identification of the underlying genetic defect in core and centronuclear myopathies. Muscle imaging demonstrates characteristic patterns, which can be helpful for the differentiation of individual limb girdle muscular dystrophies. The aim of this review is to give a comprehensive overview of current methods and applications as well as future perspectives in the field of neuromuscular imaging in inherited muscle diseases. We also provide diagnostic algorithms that might guide us through the differential diagnosis in hereditary myopathies.
authors.affiliation: Department of Radiology, VU University Medical Center, De Boelelaan 1117, 1081, HV, Amsterdam, the Netherlands. m.wattjes@vumc.nl
authors.forename: Mike P
authors.initials: MP
authors.lastname: Wattjes
authors.forename: Rudolf A
authors.initials: RA
authors.lastname: Kley
authors.forename: Dirk
authors.initials: D
authors.lastname: Fischer
mesh_terms: D000293:Adolescent; D000328:Adult; D002154:Calpain / Q000378:metabolism; D003952:Diagnostic Imaging / Q000379:methods; D000073939:Dysferlin; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry; D009124:Muscle Proteins / Q000737:chemistry; D009132:Muscles / Q000000981:diagnostic imaging / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000000981:diagnostic imaging / Q000473:pathology*; D049031:Sarcoglycans / Q000737:chemistry; D014057:Tomography, X-Ray Computed / Q000379:methods; D014463:Ultrasonography
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D049031:Sarcoglycans; D002154:Calpain