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X-Linked Charcot-Marie-Tooth
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              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

                                      1. 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
                                      2. 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
                                      3. Vivekanandam V et al: CNS phenotype in X-linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry. ePub, 2018 (not available yet)
                                      4. 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
                                      5. 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
                                      6. Nicholson PD et al: Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. Neurol Genet. 3(1):e128, 2017
                                      7. 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
                                      8. Wang Y et al: A review of X-linked Charcot-Marie-Tooth disease. J Child Neurol. 31(6):761-72, 2016
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                • Diagnostic Checklist

                                                  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

                                                                          1. 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
                                                                          2. 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
                                                                          3. Vivekanandam V et al: CNS phenotype in X-linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry. ePub, 2018 (not available yet)
                                                                          4. 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
                                                                          5. 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
                                                                          6. Nicholson PD et al: Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. Neurol Genet. 3(1):e128, 2017
                                                                          7. 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
                                                                          8. Wang Y et al: A review of X-linked Charcot-Marie-Tooth disease. J Child Neurol. 31(6):761-72, 2016