Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

Nicholas E Johnson; Chad R Heatwole; Nuran Dilek; Janet Sowden; Callyn A Kirk; Denise Shereff; Michael E Shy; David N Herrmann

doi:10.1016/j.nmd.2014.06.433

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Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

Journal article

Peer reviewed

Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

Nicholas E Johnson, Chad R Heatwole, Nuran Dilek, Janet Sowden, Callyn A Kirk, Denise Shereff, Michael E Shy and David N Herrmann

Neuromuscular disorders : NMD, Vol.24(11), pp.1018-1023

11/2014

DOI: 10.1016/j.nmd.2014.06.433

PMCID: PMC4253871

PMID: 25092060

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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.

Charcot–Marie–Tooth disease

Peripheral neuropathy

Patient reported outcomes

Quality of life

Details

Title: Subtitle: Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective
Creators: Nicholas E Johnson - The University of Utah, The Department of Neurology, Department of Pediatrics, and Department of Pathology, United States
Chad R Heatwole - The University of Rochester, Department of Neurology, United States
Nuran Dilek - The University of Rochester, Department of Neurology, United States
Janet Sowden - The University of Rochester, Department of Neurology, United States
Callyn A Kirk - The University of South Florida, Pediatrics Epidemiology Center, United States
Denise Shereff - The University of South Florida, School of Information, United States
Michael E Shy - The University of Iowa, Department of Neurology, United States
David N Herrmann - The University of Rochester, Department of Neurology, United States
Resource Type: Journal article
Publication Details: Neuromuscular disorders : NMD, Vol.24(11), pp.1018-1023
DOI: 10.1016/j.nmd.2014.06.433
PMID: 25092060
PMCID: PMC4253871
NLM abbreviation: Neuromuscul Disord
ISSN: 0960-8966
eISSN: 1873-2364
Publisher: Elsevier B.V
Language: English
Date published: 11/2014
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020899902771

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