title: Electrical impedance myography discriminates congenital muscular dystrophy from controls.
abstract: BACKGROUND
  Electrical impedance myography (EIM) is an emerging non-invasive, highly reproducible electrophysiological technique that objectively characterizes muscle structure and composition by measuring bioimpedance. We assessed the ability of EIM ability to discriminate 2 forms of congenital muscular dystrophy (CMD), laminin α2 (LAMA2)-deficient CMD and collagen VI-deficient (COL6) CMD, from a group of healthy children. We also investigated correlations between subcutaneous fat thickness and EIM parameters.
  
  
  METHODS
  Twenty-eight children with LAMA2 CMD (n = 12) or COL6 (n = 16) CMD and 18 normal children underwent EIM testing.
  
  
  RESULTS
  The EIM 50-kHz phase was decreased in LAMA2 and COL6 CMD when compared with controls (P < 0.001). Reactance, however, was decreased in COL6 but not LAMA2 CMD compared with controls (P < 0.001).
  
  
  CONCLUSIONS
  Our findings suggest that EIM may be useful in discriminating CMD from controls and may serve as a useful biomarker to follow disease progression in clinical trials.
authors.affiliation: Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, CRC Room 7SW-5680, 10 Center Drive MSC 1404, Bethesda, Maryland, 20892, USA.
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Schwartz
authors.affiliation: Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, Bethesda, MD.|Department of Neurology, Division of Pediatric Neurology/Neuromuscular Medicine Columbia University Medical Center, New York, NY.
authors.forename: Jahannaz
authors.initials: J
authors.lastname: Dastgir
authors.affiliation: Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, CRC Room 7SW-5680, 10 Center Drive MSC 1404, Bethesda, Maryland, 20892, USA.
authors.forename: Anam
authors.initials: A
authors.lastname: Salman
authors.affiliation: Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, CRC Room 7SW-5680, 10 Center Drive MSC 1404, Bethesda, Maryland, 20892, USA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Lear
authors.affiliation: Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, Bethesda, MD.
authors.forename: Carsten G
authors.initials: CG
authors.lastname: Bönnemann
authors.affiliation: Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, CRC Room 7SW-5680, 10 Center Drive MSC 1404, Bethesda, Maryland, 20892, USA.
authors.forename: Tanya J
authors.initials: TJ
authors.lastname: Lehky
mesh_terms: D000273:Adipose Tissue / Q000473:pathology; D000293:Adolescent; D000704:Analysis of Variance; D002648:Child; D003094:Collagen / Q000235:genetics; D017097:Electric Impedance; D004576:Electromyography; D005260:Female; D006801:Humans; D007797:Laminin / Q000235:genetics; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D012867:Skin / Q000473:pathology
chemical_list: C481130:COL16A1 protein, human; D007797:Laminin; C102645:laminin alpha 2; D003094:Collagen
keywords: congenital muscular dystrophy; electrical impedance myography; handheld array; pediatric; subcutaneous fat