ArticleNeuromuscular disorders : NMD2014
Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective.
Article in Neuromuscular disorders : NMD, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 108 citations in OpenAlex.
- Specialized orthotic care to improve functioning in adults with neuromuscular disorders: results of an open-label blinded end-point randomized controlled trial.European journal of physical and rehabilitation medicine · 2025Trial
- A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.Orphanet journal of rare diseases · 2021Trial
- Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.Neurology · 2026Article
- Fatigue as a modifier of diet quality in adults with Charcot Marie Tooth disease.Journal of neuromuscular diseases · 2026Article
- Development and Validation of the Inclusion Body Myositis-Health Index: A Disease-Specific Patient-Reported Outcome Measure for Use in Clinical Trials and Drug-Labeling Claims.Journal of clinical neuromuscular disease · 2026Article
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Physical Therapy Interventions for Gait and Balance in Charcot-Marie-Tooth Disease: A Scoping Review.Life (Basel, Switzerland) · 2025Review
- All hands on deck: The multidisciplinary rehabilitation assessment and management of hand function in persons with neuromuscular disorders.Muscle & nerve · 2025Review
- Patient- and Caregiver-Reported Impact of Symptoms in Alzheimer Disease, Mild Cognitive Impairment, and Dementia.Neurology. Clinical practice · 2025Article
- Neuromuscular transmission deficits in patients with CMT and ClC-1 inhibition in CMT animal models.Annals of clinical and translational neurology · 2025Observational
- Characterization of a humanized mouse model of Charcot-Marie-Tooth type 1A for the discovery of humanFrontiers in neurology · 2025Article
- Current Treatment Methods for Charcot-Marie-Tooth Diseases.Biomolecules · 2024Review
- Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland.Cerebellum (London, England) · 2024Article
- Hyaluronic Acid-based Fillers for Facial Rehabilitation in Inherited Neuropath.Plastic and reconstructive surgery. Global open · 2024Article
- Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD).Orphanet journal of rare diseases · 2024Article
- Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy.Neurology. Clinical practice · 2023Article
- Patient-reported impact of symptoms in lung cancer (PRISM-LC).Translational lung cancer research · 2023Article
- Patient-Reported Impact of Symptoms in Friedreich Ataxia.Neurology · 2023Article
- Effects of specialist care lower limb orthoses on personal goal attainment and walking ability in adults with neuromuscular disorders.PloS one · 2023Article
- Management of Stress Urinary Incontinence With Pelvic Floor Muscle Training for a Woman With Charcot-Marie-Tooth Disease: A Case Report.Journal of chiropractic medicine · 2022Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
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.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.