Author Archives: Vanda Pinto PhD

New LITAF Gene Mutation, Unusual CMT1C Symptoms Reported in Case

A European man was finally diagnosed with a rare mutation causing Charcot-Marie-Tooth disease type 1C (CMT1C), although his initial symptoms, including weakness of only one arm, were considered uncharacteristic of this disorder, a case report described. The study, “Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new…

CMT, in Costly Error, Can Be Mistaken for Similar Rare Disorder

A sizable number of people at 16 hospitals in three European countries were wrongly diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and treated for that disorder, only to learn through later genetic testing that they actually had Charcot–Marie–Tooth disease (CMT), a study reported. Its researchers spotted features specific to CMT…