Neuropathic pain in patients with Charcot-Marie-Tooth type 1A
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ORIGINAL ARTICLE
Neuropathic pain in patients with Charcot-Marie-Tooth type 1A Bogdan Bjelica 1 & Stojan Peric 1 & Ivana Basta 1 & Ivo Bozovic 1 & Aleksandra Kacar 1 & Ana Marjanovic 1 & Vukan Ivanovic 1 & Marija Brankovic 1 & Milena Jankovic 1 & Ivana Novakovic 2 & Vidosava Rakocevic Stojanovic 1 Received: 7 August 2019 / Accepted: 5 November 2019 # Fondazione Società Italiana di Neurologia 2019
Abstract Background Only several studies analyzed the characteristics of neuropathic pain (NeP) more extensively in patients with Charcot-Marie-Tooth type 1A (CMT1A). Therefore, we sought to determine the frequency and features of NeP in CMT1A patients and to assess the association between NeP and sociodemographic and clinical characteristics of patients with CMT1A. Methods Our research included 51 genetically diagnosed CMT1A patients. The International Association for the Study of Pain (IASP) criteria were used for diagnosis of NeP. PainDETECT questionnaire (PD-Q) was used to assess NeP features. The Medical Research Council (MRC) Sum Score, CMT Neuropathy Score (CMTNS), Overall Neuropathy Limitation Scale (ONLS) score, and Beck Depression Inventory were also used. Results NeP was present in 15 (29.4%) patients with CMT1A. The average intensity of pain was 5.7 ± 2.2 out of 10. The most sensitive neuropathic symptoms were numbness, then tingling, and burning sensations, while the most specific symptom was allodynia. Patients with NeP more frequently reported pain in the back (p < 0.01) and the trunk (p < 0.05). Patients with NeP had more pronounced disability of the upper extremities and overall disability, as assessed by the ONLS score (p < 0.05). Depression was more frequent in patients with NeP compared with patients without NeP (66.7 to 13.9%, p < 0.01). Conclusion NeP was present in almost one-third of the patients with CMT1A and it was moderate on average. Presence of NeP was associated with worse functional disability and depression. Keywords Charcot-Marie-Tooth disease type 1A . Neuropathic pain . Disability . Depression
Introduction Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuromuscular disease with prevalence between 1 in 2500 and 1 in 1214 inhabitants [1, 2]. It is genetically and clinically heterogeneous group of diseases that can be classified into three main forms: (1) demyelinating (CMT1) with uniformly reduced conduction velocity in peripheral nerves; (2) axonal (CMT2) with relatively normal conduction velocities but reduced amplitude of action potentials; and (3) intermediate, with motor conduction velocity between 35 and 45
* Stojan Peric [email protected] 1
Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 6, Dr Subotic Street, Belgrade 11 000, Serbia
2
Institute of Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia
m/s in upper limbs. CMT type 1A (CMT1A) is the most common subtype of CMT, accounting for 50% of all CMT and even 70% of all CMT1 [3, 4]. CMT1A is the autosomal dominant form of CMT caused by
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