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.
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.
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).
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.
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Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB (2011) Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 18:39–48
Saporta MA (2014) Charcot-Marie-Tooth disease and other inherited neuropathies. Continuum (MinneapMinn) 20:1208–1225
Jani-Ascadi, Krajewski K, Shy ME (2008) Charcot-Marie-Tooth: diagnosis and management. Semin Neurol 29:185–194
Murphy SM, Laura M, Fawcett K et al (2012) Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 83:706–710
Lupski JR, De Oca-Luna RM, Slaugenhaupt S et al (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219–232
Haanpää ML, Backonja MM, Bennett MI et al (2009) Assessment of neuropathic pain in primary care. Am J Med 122:13–21
Pazzaglia C, Vollono C, Ferraro D, Virdis D, Lupi V, le Pera D, Tonali P, Padua L, Valeriani M (2010) Mechanisms of neuropathic pain in patients with Charcot-Marie Tooth 1A: a laser-evoked potential study. Pain 149:379–385
Ribiere C, Bernardin M, Sacconi S, Delmont E, Fournier-Mehouas M, Rauscent H, Benchortane M, Staccini P, Lantéri-Minet M, Desnuelle C (2012) Pain assessment in Charcot-Marie-Tooth (CMT) disease. Ann Phys Rehabil Med 55(3):160–173
Laurà M, Hutton EJ, Blake J, Lunn MP, Fox Z, Pareyson D, Solari A, Radice D, Koltzenburg M, Reilly MM (2014) Pain and small fiber function in Charcot-Marie-Tooth disease type 1A. Muscle Nerve 50(3):366–371
Aarskog NK, Vedeler CA (2000) Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 107(5):494–498
Kleyweg RP, van der Meché FG, Schmitz PI (1991) Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain-Barré syndrome. Muscle Nerve 14(11):1103–1109
Shy ME, Blake J, Krajewski K et al (2005) Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64(7):1209–1214
Graham R, Hughes R (2006) A modified peripheral neuropathy scale: the Overall Neuropathy Limitations Scale. J Neurol Neurosurg Psychiatry 77(8):973–976
Beck AT, Steer RA, Carbin MG (1988) Psychometric properties of the Beck Depression Inventory: twenty-five years of evaluation. Clin Psychol Rev 8(1):77–100
Treede RD, Jensen TS, Campbell JN, Cruccu G, Dostrovsky JO, Griffin JW, Hansson P, Hughes R, Nurmikko T, Serra J (2008) Neuropathic pain: redefinition and a grading system for clinical and research purposes. Neurology 70(18):1630–1635
Freynhagen R, Baron R, Gockel U, Tölle TR (2006) painDETECT: a new screening questionnaire to identify neuropathic components in patients with back pain. Curr Med Res Opin 22(10):1911–1920
Carter GT, Jensen MP, Galer BS, Kraft GH, Crabtree LD, Beardsley RM, Abresch RT, Bird TD (1998) Neuropathic pain in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil 79:1560–1564
Ramchandren S, Jaiswal M, Feldman E, Shy M (2014) Effect of pain in pediatric inherited neuropathies. Neurology 82(9):793–797
Jensen MP, Abresch RT, Carter GT, McDonald CM (2005) Chronic pain in persons with neuromuscular disease. Arch Phys Med Rehabil 86(6):1155–1163
Abresch RT, Carter GT, Jensen MP, Kilmer DD (2002) Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. Am J Hosp Palliat Med 19:39–48
Tiffreau V, Viet G, Thevenon A (2006) Pain and neuromuscular disease. Am J Phys Med Rehabil 85(9):756–766
Singleton JR (2005) Evaluation and treatment of painful peripheral polyneuropathy. Semin Neurol 25:185–195
Van Paassen B, Van der Kooi A, Spaendonck-Zwarts VK, Verhamme C, Baas F, De Visser M (2014) PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J Rare Dis 9:38
Liao JP, Waclawik AJ (2004) Nerve root hypertrophy in CMT type 1A. Neurology 62(5):783
Argoff CE (2007) The coexistence of neuropathic pain, sleep, and psychiatric disorders: a novel treatment approach. Clin J Pain 23(1):15–22
This study was approved by the Ethical Committee of the Faculty of Medicine, University of Belgrade, and informed consent was obtained from all individual participants included in the study.
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Bjelica, B., Peric, S., Basta, I. et al. Neuropathic pain in patients with Charcot-Marie-Tooth type 1A. Neurol Sci 41, 625–630 (2020). https://doi.org/10.1007/s10072-019-04142-5
- Charcot-Marie-Tooth disease type 1A
- Neuropathic pain