title: Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.
abstract: OBJECTIVE
  The burden of Charcot-Marie-Tooth type 1A (CMT1A), the most common inherited peripheral neuropathy, including impact on patient quality of life (QOL) is not well understood. This study aims to qualitatively describe the range of symptoms associated with CMT1A and impact on QOL.
  
  
  METHODS
  We performed qualitative interviews with 16 adult CMT1A patients. Each interview was analyzed using a qualitative framework technique to identify and index symptoms by theme.
  
  
  RESULTS
  Sixteen patients provided 656 quotes. One hundred forty-five symptoms of importance were identified representing 20 symptomatic themes. Symptoms associated with difficulty with mobility and ambulation, specific activity impairment, and emotional distress were the most frequently mentioned.
  
  
  CONCLUSIONS
  Multiple symptoms contribute to CMT1A disease burden, some previously underrecognized. Improved recognition of underrecognized symptoms will optimize patient care and QOL.
authors: Department of Neurology, University of Rochester Medical Center, Rochester, NY 44642, USA. nicholas_johnson@urmc.rochester.edu
authors: Nicholas E
authors: NE
authors: Johnson
authors: Chad R
authors: CR
authors: Heatwole
authors: Michele
authors: M
authors: Ferguson
authors: Janet E
authors: JE
authors: Sowden
authors: Shanie
authors: S
authors: Jeanat
authors: David N
authors: DN
authors: Herrmann
mesh_terms: D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000523:psychology*; D017281:Cost of Illness; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011788:Quality of Life / Q000523:psychology*
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