title: Electromyographic tendon reflex recording: An accurate and comfortable method for diagnosis of charcot-marie-tooth disease type 1a.
abstract: BACKGROUND
  We analyzed the utility of tendon reflex (T-reflex) testing in Charcot-Marie-Tooth disease type 1A (CMT1A).
  
  
  METHODS
  A total of 82 subjects from 27 unrelated CMT1A pedigrees were evaluated prospectively. The series also comprised 28 adult healthy controls. Electrophysiology included evaluation of biceps T-reflex and soleus T-reflex.
  
  
  RESULTS
  Seventy-one individuals (62 adults and 9 children) had clinical and electrophysiological features of CMT1A. The remaining 11 (8 adults and 3 children) were unaffected. On electrophysiological testing, the biceps T-reflex was elicited in 58 of 62 (93%) adult CMT1A patients and in all 9 affected children. Latencies of the biceps T-reflex were always markedly prolonged, and a cut-off limit of 16.25 ms clearly separated adult patients and controls or unaffected kin adult individuals. In affected children, the soleus T-reflex latency was also prolonged when compared with age and height normative data.
  
  
  CONCLUSIONS
  T-reflex testing is an accurate diagnostic technique for CMT1A patients.
authors.affiliation: Service of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla, University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Santander, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: García
authors.affiliation: Service of Neurology, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla, University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Santander, Spain.
authors.forename: Ana L
authors.initials: AL
authors.lastname: Pelayo-Negro
authors.affiliation: Service of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla, University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Santander, Spain.
authors.forename: Silvia
authors.initials: S
authors.lastname: Álvarez-Paradelo
authors.affiliation: Service of Epidemiology, University Hospital Marqués de Valdecilla and Instituto de Investigación Marqués de Valdecilla, Santander, Spain.
authors.forename: Francisco M
authors.initials: FM
authors.lastname: Antolín
authors.affiliation: Service of Neurology, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla, University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Santander, Spain.
authors.forename: José
authors.initials: J
authors.lastname: Berciano
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008668:Metallothionein / Q000235:genetics; D008875:Middle Aged; D009431:Neural Conduction; D012372:ROC Curve; D012018:Reflex / Q000502:physiology*; D018709:Statistics, Nonparametric; D055815:Young Adult
chemical_list: C530099:MT1A protein, human; D008668:Metallothionein
keywords: 17p.11.2 duplication; CMT1A; Charcot-Marie-Tooth disease; T-reflex; hereditary neuropathy; motor nerve conduction velocity; tendon reflexes