Charcot-Marie-Tooth (CMT), X-linked CMT (CMTX), CMTX type 1 (CMTX1)
Definitions
X-linked hereditary peripheral sensory and motor neuropathy
2nd most common CMT variant (~ 10-15% CMT patients) after CMT1A
CMTX type 1 causes 90% of CMTX
IMAGING
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CT Findings
MR Findings
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DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
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DIAGNOSTIC CHECKLIST
Consider
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Selected References
Koutsis G et al: X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. J Neurol Neurosurg Psychiatry. 90(2):187-94, 2018
Nishikura N et al: X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. Brain Dev. 41(2):201-4, 2018
Vivekanandam V et al: CNS phenotype in X-linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry. ePub, 2018 (not available yet)
Yuan JH et al: Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1. Eur J Neurol. 25(12):1454-61, 2018
Kim JK et al: X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: a case report. Medicine (Baltimore). 96(49):e9176, 2017
Nicholson PD et al: Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. Neurol Genet. 3(1):e128, 2017
Panosyan FB et al: Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 89(9):927-35, 2017
Wang Y et al: A review of X-linked Charcot-Marie-Tooth disease. J Child Neurol. 31(6):761-72, 2016
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TERMINOLOGY
Abbreviations
Charcot-Marie-Tooth (CMT), X-linked CMT (CMTX), CMTX type 1 (CMTX1)
Definitions
X-linked hereditary peripheral sensory and motor neuropathy
2nd most common CMT variant (~ 10-15% CMT patients) after CMT1A
CMTX type 1 causes 90% of CMTX
IMAGING
General Features
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Koutsis G et al: X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. J Neurol Neurosurg Psychiatry. 90(2):187-94, 2018
Nishikura N et al: X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. Brain Dev. 41(2):201-4, 2018
Vivekanandam V et al: CNS phenotype in X-linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry. ePub, 2018 (not available yet)
Yuan JH et al: Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1. Eur J Neurol. 25(12):1454-61, 2018
Kim JK et al: X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: a case report. Medicine (Baltimore). 96(49):e9176, 2017
Nicholson PD et al: Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. Neurol Genet. 3(1):e128, 2017
Panosyan FB et al: Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 89(9):927-35, 2017
Wang Y et al: A review of X-linked Charcot-Marie-Tooth disease. J Child Neurol. 31(6):761-72, 2016
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