Related Experiment Video
Updated: May 8, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A
Nicholas E Johnson1, Chad R Heatwole, Michele Ferguson
1Department of Neurology, University of Rochester Medical Center, Rochester, NY 44642, USA. nicholas_johnson@urmc.rochester.edu
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.
Related Concept Videos
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Peripheral Artery Disease I: Introduction
Type I Diabetes III: Clinical Manifestations
Multiple Sclerosis l: Introduction
Huntington Disease l: Introduction
