title: Pain and small fiber function in Charcot-Marie-Tooth disease type 1A.
abstract: BACKGROUND
  Charcot-Marie-Tooth (CMT) disease type 1A is the most common form of CMT. The main clinical features are distal weakness, sensory loss, and skeletal deformities. Although pain is a frequent complaint, small fiber involvement in CMT1A has not been studied extensively.
  
  
  METHODS
  We assessed pain and small fiber involvement in 49 CMT1A patients using a variety of pain scales, pain questionnaires, and thermal thresholds.
  
  
  RESULTS
  Forty-three of 49 patients (88%) complained of pain. The pain was localized to the feet in 61% of patients. Only 18% of patients had neuropathic pain. Cold and warm detection thresholds were elevated in 53% and 12% of patients, respectively.
  
  
  CONCLUSIONS
  Our findings confirm that CMT1A patients have significant pain, which is more likely to be multifactorial in origin and suggests that a proportion of patients have small fiber dysfunction affecting mainly thinly myelinated Aδ fibers.
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
authors.forename: Matilde
authors.initials: M
authors.lastname: Laurà
authors.forename: Elspeth J
authors.initials: EJ
authors.lastname: Hutton
authors.forename: Julian
authors.initials: J
authors.lastname: Blake
authors.forename: Michael P
authors.initials: MP
authors.lastname: Lunn
authors.forename: Zoe
authors.initials: Z
authors.lastname: Fox
authors.forename: Davide
authors.initials: D
authors.lastname: Pareyson
authors.forename: Alessandra
authors.initials: A
authors.lastname: Solari
authors.forename: Davide
authors.initials: D
authors.lastname: Radice
authors.forename: Martin
authors.initials: M
authors.lastname: Koltzenburg
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000473:pathology*; D015331:Cohort Studies; D003080:Cold Temperature; D016001:Confidence Intervals; D005260:Female; D006358:Hot Temperature; D006801:Humans; D008297:Male; D008875:Middle Aged; D009412:Nerve Fibers / Q000473:pathology*; D010146:Pain / Q000209:etiology*; D010147:Pain Measurement; D017288:Pain Threshold; D011795:Surveys and Questionnaires; D013697:Thermosensing / Q000502:physiology; D055815:Young Adult
keywords: Charcot-Marie-Tooth; PMP22; pain; small fiber; thermal thresholds