Abstract
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary neuropathy. To investigate the prevalence and characteristics of pain in patients with CMT1A. Nineteen patients with a diagnosis of CMT1A were evaluated between September 2018 and October 2019, and other causes of neuropathy were ruled out. The following tools were used for the pain assessment: neurological assessment, LANSS, DN4, clinical evaluation, VAS, CMTNS2 and SF-36. Statistical analysis was performed using prevalence analysis, t test, chi-square test and Spearman's rho. The prevalence of pain was 84.2% in the sample of this study, with moderate intensity and nociceptive characteristics according to the LANSS scale (75%) and clinical evaluation (50%), but differing from DN4, which found neuropathic pain in the majority of the patients (56.2%). Mixed pain was also observed in 43.7% of the patients, according to clinical criteria. There was a statistically significant correlation between pain intensity and SF-36, thus demonstrating that the lower the pain was, the lower the impairment was, in all domains. Pain is a prevalent and important symptom in CMT1A, with moderate intensity and nociceptive characteristics according to two tools, but neuropathic pain is also present, and there may even be a mixed pattern of pain. The correlation of the pain with SF-36 suggests that pain relief could provide improvements to the quality of life of these individuals.
Highlights
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy that has heterogeneous genetic and clinical expression, Its prevalence is at least 1 in 2,500 individuals or 1 in 1,214, depending on the ethnicity and evaluation method
Since the specific scales do not include mixed pain as a separate type, we evaluated a correlation between mixed pain and the clinical evaluation, according to the data collected in the anamnesis and physical examination
The pain intensity according to the visual analogue scale (VAS) scale was moderate (56.2%), with a mean score of 3.56 ± 2.98
Summary
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy that has heterogeneous genetic and clinical expression, Its prevalence is at least 1 in 2,500 individuals or 1 in 1,214, depending on the ethnicity and evaluation method. CMT type 1A (CMT1A) is the most common hereditary neuropathy and accounts for 40 to 60% of all cases with a confirmed molecular diagnosis It is caused by a duplication on chromosome 17p11.2, which encodes the peripheral myelin protein gene (PMP22), with a dominant pattern of inheritance. Results: The prevalence of pain was 84.2% in the sample of this study, with moderate intensity and nociceptive characteristics according to the LANSS scale (75%) and clinical evaluation (50%), but differing from DN4, which found neuropathic pain in the majority of the patients (56.2%). The correlation of the pain with SF-36 suggests that pain relief could provide improvements to the quality of life of these individuals
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