期刊
MUSCLE & NERVE
卷 50, 期 3, 页码 366-371出版社
WILEY
DOI: 10.1002/mus.24169
关键词
Charcot-Marie-Tooth; pain; PMP22; small fiber; thermal thresholds
资金
- Muscular Dystrophy Campaign [RA3/736/1]
- Medical Research Council (MRC)
- NINDS/ORD [1U54NS065712-01]
- Department of Health's National Institute for Health Research Biomedical Research Centres
- Medical Research Council [G0802497, MR/K000608/1] Funding Source: researchfish
- MRC [MR/K000608/1, G0802497] Funding Source: UKRI
Introduction: Charcot-Marie-Tooth (CMT) disease type 1A is the most common form of CMT. The main clinical features are distal weakness, sensory loss, and skeletal deformities. Although pain is a frequent complaint, small fiber involvement in CMT1A has not been studied extensively. Methods: We assessed pain and small fiber involvement in 49 CMT1A patients using a variety of pain scales, pain questionnaires, and thermal thresholds. Results: Forty-three of 49 patients (88%) complained of pain. The pain was localized to the feet in 61% of patients. Only 18% of patients had neuropathic pain. Cold and warm detection thresholds were elevated in 53% and 12% of patients, respectively. Conclusions: Our findings confirm that CMT1A patients have significant pain, which is more likely to be multifactorial in origin and suggests that a proportion of patients have small fiber dysfunction affecting mainly thinly myelinated Ad fibers.
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