Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy

Shahrizaila N 1 , Noto Y 2 , Simon NG 3 , Huynh W 2 , Shibuya K 2 , Matamala JM 2 Show all authors , Dharmadasa T 2 , Devenney E 2 , Kennerson ML 4 , Nicholson GA 4 , Kiernan MC 2

Affiliations 

  • 1 Brain and Mind Centre, University of Sydney, Camperdown, Australia; Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Electronic address: [email protected]
  • 2 Brain and Mind Centre, University of Sydney, Camperdown, Australia
  • 3 St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia
  • 4 ANZAC Research Institute and Sydney Medical School, University of Sydney, Sydney, Australia
Clin Neurophysiol, 2017 Jan;128(1):227-232.
PMID: 27940147 DOI: 10.1016/j.clinph.2016.11.010

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).

CONCLUSION: In CMT, quantitative muscle ultrasound of FDI and TA is a useful marker of disease severity.

SIGNIFICANCE: The current findings suggest that quantitative muscle ultrasound has potential as a surrogate marker of disease progression in future interventional trials in CMT.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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