title: Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective.
abstract: This study determines the impact of symptoms associated with Charcot-Marie-Tooth disease on quality-of-life. Charcot-Marie-Tooth patients in the Inherited Neuropathies Consortium Rare Diseases Clinical Research Network Contact Registry were surveyed. The survey inquired about 214 symptoms and 20 themes previously identified as important to Charcot-Marie-Tooth patients through patient interviews. Symptom population impact was calculated as the prevalence multiplied by the relative importance of each symptom identified. Prevalence and symptom impact were analyzed by age, symptom duration, gender, Charcot-Marie-Tooth type, and employment status. 407 participants returned the survey, identifying foot and ankle weakness (99.7%) and impaired balance (98.6%) as the most prevalent themes. Foot and ankle weakness and limitations with mobility were the themes with the highest impact. Both symptom prevalence and impact gradually increased with age and symptom duration. Several themes were more prevalent in women with Charcot-Marie-Tooth, including activity limitations, pain, fatigue, hip-thigh weakness, and gastrointestinal issues. All of the themes, except emotional or body image issues, were more prevalent among unemployed individuals. There were minimal differences in symptom prevalence between Charcot-Marie-Tooth types. There are multiple symptoms that impact Charcot-Marie-Tooth quality-of-life in adults. These symptoms have different levels of importance, are readily recognized by patients, and represent critical areas of Charcot-Marie-Tooth health.
authors.affiliation: The University of Utah, The Department of Neurology, Department of Pediatrics, and Department of Pathology, United States. Electronic address: Nicholas.johnson@hsc.utah.edu.
authors.forename: Nicholas E
authors.initials: NE
authors.lastname: Johnson
authors.affiliation: The University of Rochester, Department of Neurology, United States.
authors.forename: Chad R
authors.initials: CR
authors.lastname: Heatwole
authors.affiliation: The University of Rochester, Department of Neurology, United States.
authors.forename: Nuran
authors.initials: N
authors.lastname: Dilek
authors.affiliation: The University of Rochester, Department of Neurology, United States.
authors.forename: Janet
authors.initials: J
authors.lastname: Sowden
authors.affiliation: The University of South Florida, Pediatrics Epidemiology Center, United States.
authors.forename: Callyn A
authors.initials: CA
authors.lastname: Kirk
authors.affiliation: The University of South Florida, School of Information, United States.
authors.forename: Denise
authors.initials: D
authors.lastname: Shereff
authors.affiliation: The University of Iowa, Department of Neurology, United States.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Shy
authors.affiliation: The University of Rochester, Department of Neurology, United States.
authors.forename: David N
authors.initials: DN
authors.lastname: Herrmann
mesh_terms: D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology / Q000523:psychology*; D004651:Employment; D005260:Female; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011788:Quality of Life / Q000523:psychology*
keywords: Charcot–Marie–Tooth disease; Patient reported outcomes; Peripheral neuropathy; Quality of life
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