Evolution of Charcot–Marie–Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study

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• 作者：Ana L. Pelayo-Negro (1)
  Elena Gallardo (2)
  Antonio García (3)
  Pascual Sánchez-Juan (1)
  Jon Infante (1)
  José Berciano (1)
  
• 关键词：Charcot–Marie–Tooth disease type 1A ; CMTNS ; Hand ; held dynamometry ; Electrophysiology ; Functional disability scale ; MRI ; Muscle fatty atrophy ; Muscle edema ; PMP22 duplication
• 刊名：Journal of Neurology
• 出版年：2014
• 出版时间：April 2014
• 年：2014
• 卷：261
• 期：4
• 页码：675-685
• 全文大小：825 KB
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• 作者单位：Ana L. Pelayo-Negro (1)
  Elena Gallardo (2)
  Antonio García (3)
  Pascual Sánchez-Juan (1)
  Jon Infante (1)
  José Berciano (1)
  
  1. Service of Neurology, University Hospital “Marqués de Valdecilla (IFIMAV)- University of Cantabria (UC) and “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)- Santander, Spain
  2. Service of Radiology, University Hospital “Marqués de Valdecilla (IFIMAV)- UC and CIBERNED, Santander, Spain
  3. Service of Clinical Neurophysiology, University Hospital “Marqués de Valdecilla (IFIMAV)- UC and CIBERNED, Santander, Spain
  
• ISSN：1432-1459

文摘

The objective of this study was to analyze Charcot–Marie–Tooth disease type 1A (CMT1A) evolution. We conducted a 2-year longitudinal study in 14 CMT1A patients and 14 age- and sex-matched controls. In the patients, we performed neurological examination with hand-held dynamometry, electrophysiology, and lower-limb muscle MRI, both at baseline and 2?years later, while controls were examined at baseline only. Patients-ages ranged from 12 to 51?years. Outstanding manifestations on initial evaluation included pes cavus, areflexia, lower-limb weakness, and foot hypopallesthesia. In evaluating muscle power, good correlation was observed between manual testing and dynamometry. Compared to controls, Lunge, 10-Meter-Walking, and 9-Hole-Peg tests were impaired. Their CMT neuropathy score and functional disability scale showed that patients exhibited mild phenotype and at most slight walking difficulty. Electrophysiology revealed marked nerve conduction slowing and variable compound muscle action potential amplitude reduction. On lower-limb muscle MRI, there was distally accentuated fatty infiltration accompanied by edema in calf muscles. All these clinico-electrophysiological and imaging findings remained almost unaltered during monitoring. Using multivariate analysis, no significant predictors of progression associated to the disease were obtained. We conclude that in the 2-year period of study, CMT1A patients showed mild progression with good concordance between clinico-electrophysiological and imaging findings.