title: Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy.
abstract: OBJECTIVE
  The utility of quantitative muscle ultrasound as a marker of disease severity in Charcot-Marie-Tooth (CMT) disease subtypes was investigated.
  
  
  METHODS
  Muscle ultrasound was prospectively performed on 252 individual muscles from 21 CMT patients (9 CMT1A, 8 CMTX1, 4 CMT2A) and compared to 120 muscles from 10 age and gender-matched controls. Muscle ultrasound recorded echogenicity and thickness in representative muscles including first dorsal interosseus (FDI) and tibialis anterior (TA).
  
  
  RESULTS
  Muscle volume of FDI and thickness of TA correlated with MRC strength. Muscle echogenicity was significantly increased in FDI (65.05 vs 47.09; p<0.0001) and TA (89.45 vs 66.30; p<0.0001) of CMT patients. In TA, there was significantly higher muscle thickness (23 vs 18 vs 16mm; p<0.0001) and lower muscle echogenicity (80 vs 95 vs 108; p<0.0001) in CMT1A compared to CMTX1 and CMT2A. This corresponded to disease severity based on muscle strength (MRC grading CMT1A vs CMTX1 vs CMT2A: 59 vs 48 vs 44; p=0.002).
  
  
  CONCLUSIONS
  In CMT, quantitative muscle ultrasound of FDI and TA is a useful marker of disease severity.
  
  
  CONCLUSIONS
  The current findings suggest that quantitative muscle ultrasound has potential as a surrogate marker of disease progression in future interventional trials in CMT.
authors.affiliation: Brain and Mind Centre, University of Sydney, Camperdown, Australia; Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Electronic address: nortina@um.edu.my.
authors.forename: N
authors.initials: N
authors.lastname: Shahrizaila
authors.affiliation: Brain and Mind Centre, University of Sydney, Camperdown, Australia.
authors.forename: Y
authors.initials: Y
authors.lastname: Noto
authors.affiliation: St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia.
authors.forename: N G
authors.initials: NG
authors.lastname: Simon
authors.affiliation: Brain and Mind Centre, University of Sydney, Camperdown, Australia.
authors.forename: W
authors.initials: W
authors.lastname: Huynh
authors.affiliation: Brain and Mind Centre, University of Sydney, Camperdown, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Shibuya
authors.affiliation: Brain and Mind Centre, University of Sydney, Camperdown, Australia.
authors.forename: J M
authors.initials: JM
authors.lastname: Matamala
authors.affiliation: Brain and Mind Centre, University of Sydney, Camperdown, Australia.
authors.forename: T
authors.initials: T
authors.lastname: Dharmadasa
authors.affiliation: Brain and Mind Centre, University of Sydney, Camperdown, Australia.
authors.forename: E
authors.initials: E
authors.lastname: Devenney
authors.affiliation: ANZAC Research Institute and Sydney Medical School, University of Sydney, Sydney, Australia.
authors.forename: M L
authors.initials: ML
authors.lastname: Kennerson
authors.affiliation: ANZAC Research Institute and Sydney Medical School, University of Sydney, Sydney, Australia.
authors.forename: G A
authors.initials: GA
authors.lastname: Nicholson
authors.affiliation: Brain and Mind Centre, University of Sydney, Camperdown, Australia.
authors.forename: M C
authors.initials: MC
authors.lastname: Kiernan
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000000981:diagnostic imaging* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging* / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D011446:Prospective Studies; D014463:Ultrasonography / Q000379:methods*
keywords: CMT Neuropathy Score; Charcot-Marie-Tooth; Muscle ultrasound; Nerve ultrasound; Outcome biomarkers