Unusual presentation of Charcot Marie-Tooth disease-incoordination with absent of minimal wasting-Report of 2 cases.
Two patients are reported presenting with incoordination mimicking cerebellar disease in the upper and lower limbs, ataxia of gait, absent tendon reflexes and little or no clinically detectable wasting. Motor conduction velocity in the upper limbs was substantially reduced in one patient whereas it was normal and slightly reduced in the other. It is concluded that in Charcot-Marie Tooth disease incoordination may mimic cerebellar disease and when this is so it is due to the association of varying degrees of proprioceptive deafferentation and a dyskinesia similar to that produced by familial (essential) tremor.
D000293:Adolescent; D000328:Adult; D002524:Cerebellar Ataxia / Q000175:diagnosis; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000175:diagnosis*; D009431:Neural Conduction; D010375:Pedigree