Pain in Charcot-Marie-Tooth disease: an update

Azevedo, Helen; Pupe, Camila; Pereira, Rouse; Nascimento, Osvaldo J. M.

doi:10.1590/0004-282X20180021

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Arquivos de Neuro-Psiquiatria

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View and Review • Arq. Neuro-Psiquiatr. 76 (4) • Apr 2018 • https://doi.org/10.1590/0004-282X20180021 copy

Pain in Charcot-Marie-Tooth disease: an update

Dor na doença de Charcot-Marie-Tooth: atualização

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Charcot-Marie-Tooth (CMT) disease, the most common inherited peripheral neuropathy, has pain as one of its clinical features, yet it remains underdiagnosed and undertreated. This literature review assessed data related to pain from CMT to determine its prevalence, type and importance as a symptom, which, unlike other symptoms, is likely to be treated. The research encompassed 2007 to 2017 and included five articles that addressed pain from CMT. All of the papers concurred that pain is frequently present in CMT patients, yet its classification remains undefined as there has been no consensus in the literature about the mechanisms that cause it.

Keywords:
Charcot-Marie-Tooth disease; pain

Study	Ribiere et al., 2012⁷7. Ribiere C, Bernardin M, Sacconi S, Delmont E, Fournier-Mehouas M, Rauscent H et al. Pain assessment in Charcot-Marie-Tooth (CMT) disease. Ann Phys Rehabil Med. 2012 Apr;55(3):160-73. https://doi.org/10.1016/j.rehab.2012.02.005 https://doi.org/10.1016/j.rehab.2012.02....	Pazzaglia et al., 2010⁸8. Pazzaglia C, Vollono C, Ferraro D, Virdis D, Lupi V, Le Pera D et al. Mechanisms of neuropathic pain in patients with Charcot-Marie-Tooth 1 A: a laser-evoked potential study. Pain. 2010 May;149(2):379-85. https://doi.org/10.1016/j.pain.2010.03.001 https://doi.org/10.1016/j.pain.2010.03.0...	Laurà et al., 2014⁹9. Laurà M, Hutton EJ, Blake J, Lunn MP, Fox Z, Pareyson D et al. Pain and small fiber function in Charcot-Marie-Tooth disease type 1A. Muscle Nerve. 2014 Sep;50(3):366-71. https://doi.org/10.1002/mus.24169 https://doi.org/10.1002/mus.24169...	Ramchandrem et al., 2014¹⁰10. Ramchandren S, Jaiswal M, Feldman E, Shy M. Effect of pain in pediatric inherited neuropathies. Neurology. 2014 Mar;82(9):793-7. https://doi.org/10.1212/WNL.0000000000000173 https://doi.org/10.1212/WNL.000000000000...	Oliveira et al., 2016⁵5. Oliveira AP, Pereira RC, Onofre PT, Marques VD, Andrade GB, Barreira AA et al. Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. Arq Neuropsiquiatr. 2016 Feb;74(2):99-105. https://doi.org/10.1590/0004-282X20160010 https://doi.org/10.1590/0004-282X2016001...
Participants	50	16	49	176	39
Female gender	56%	81.25%	59.18%	51%	46.1%
Duration of the disease (mean years)	20	–	34	–	8.2
Mean age	49.5 (14–85)	41 (19–63)	41.5 (19–64)	12 (2–18)	32 (6–77)
CMT 1A / 2 / X / 4	76% / 6% / 14% / 4%	100%	100%	–	–
VAS (mean)	5.5	–	3.7	–	–
DN4 ≥ 4	40.6%	62.5%	18%	–	–
Faces Pain Scale (mean)	–	–	–	2.0 “hurts little more”	–
CMTNS	–	–	–	6.1 (8–18y n=128). 4.3 (2–7y n=14)	–
Mean severity	–	moderate	moderate	mild to moderate	–
Pain most common location	Distal locations (73.5%)	Distal extremities (hand and feet)	feet (61%)	–	Lower limbs (12.8%)
Pain prevalence	60%	100%	28%	80% / 85% ^* * parent report	23%
Type of pain	Neuropathic	Neuropathic	Neuropathic and biomechanical	–	–

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[1] Correspondence: Osvaldo J. M. Nascimento; Rua Siqueira Campos, 53 / sala 1204; 22031-070 Rio de Janeiro RJ, Brasil; E-mail: osvaldo_nascimento@hotmail.com