metallothionein and Charcot-Marie-Tooth-Disease

We analyzed the utility of tendon reflex (T-reflex) testing in Charcot-Marie-Tooth disease type 1A (CMT1A).. 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.. 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.. T-reflex testing is an accurate diagnostic technique for CMT1A patients.

Topics: Adolescent; Adult; Aged; Aged, 80 and over; Charcot-Marie-Tooth Disease; Child; Child, Preschool; Electromyography; Female; Humans; Male; Metallothionein; Middle Aged; Neural Conduction; Reflex; ROC Curve; Statistics, Nonparametric; Young Adult