Antonio García1, Ana L Pelayo-Negro2, Silvia Álvarez-Paradelo1, Francisco M Antolín3, José Berciano2. 1. Service of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla, University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Santander, Spain. 2. Service of Neurology, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla, University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Santander, Spain. 3. Service of Epidemiology, University Hospital Marqués de Valdecilla and Instituto de Investigación Marqués de Valdecilla, Santander, Spain.
Abstract
INTRODUCTION: We analyzed the utility of tendon reflex (T-reflex) testing in Charcot-Marie-Tooth disease type 1A (CMT1A). METHODS: A total of 82 subjects from 27 unrelated CMT1A pedigrees were evaluated prospectively. The series also comprised 28 adult healthy controls. Electrophysiology included evaluation of biceps T-reflex and soleus T-reflex. RESULTS: Seventy-one individuals (62 adults and 9 children) had clinical and electrophysiological features of CMT1A. The remaining 11 (8 adults and 3 children) were unaffected. On electrophysiological testing, the biceps T-reflex was elicited in 58 of 62 (93%) adult CMT1A patients and in all 9 affected children. Latencies of the biceps T-reflex were always markedly prolonged, and a cut-off limit of 16.25 ms clearly separated adult patients and controls or unaffected kin adult individuals. In affected children, the soleus T-reflex latency was also prolonged when compared with age and height normative data. CONCLUSION: T-reflex testing is an accurate diagnostic technique for CMT1A patients.
INTRODUCTION: We analyzed the utility of tendon reflex (T-reflex) testing in Charcot-Marie-Tooth disease type 1A (CMT1A). METHODS: A total of 82 subjects from 27 unrelated CMT1A pedigrees were evaluated prospectively. The series also comprised 28 adult healthy controls. Electrophysiology included evaluation of biceps T-reflex and soleus T-reflex. RESULTS: Seventy-one individuals (62 adults and 9 children) had clinical and electrophysiological features of CMT1A. The remaining 11 (8 adults and 3 children) were unaffected. On electrophysiological testing, the biceps T-reflex was elicited in 58 of 62 (93%) adult CMT1A patients and in all 9 affected children. Latencies of the biceps T-reflex were always markedly prolonged, and a cut-off limit of 16.25 ms clearly separated adult patients and controls or unaffected kin adult individuals. In affected children, the soleus T-reflex latency was also prolonged when compared with age and height normative data. CONCLUSION: T-reflex testing is an accurate diagnostic technique for CMT1A patients.
Authors: José Berciano; Antonio García; Kristien Peeters; Elena Gallardo; Els De Vriendt; Ana L Pelayo-Negro; Jon Infante; Albena Jordanova Journal: J Neurol Date: 2015-04-01 Impact factor: 4.849
Authors: Jon Infante; Antonio García; Karla M Serrano-Cárdenas; Rocío González-Aguado; José Gazulla; Enrique M de Lucas; José Berciano Journal: J Neurol Date: 2018-04-25 Impact factor: 4.849