Prevalence of symptomatic Charcot-Marie-Tooth disease in Iceland: a study of a well-defined population

• Published in: Neuroepidemiology
• Main Authors: Gudmundsson, Bjarni, Olafsson, Elias, Jakobsson, Finnbogi, Ludvigsson, Petur
• Other Authors: Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
• Format: Article in Journal/Newspaper
• Language: English
• Published: S. Karger 2010
• Subjects: Adolescent; Adult; Aged; 80 and over; Charcot-Marie-Tooth Disease; Child; Preschool; Family; Female; Humans; Iceland; Male; Middle Aged; Prevalence; Young Adult; Charcot
• Online Access: http://hdl.handle.net/2336/113965; https://doi.org/10.1159/000255461

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field BACKGROUND/AIM: To determine the prevalence and clinical spectrum of Charcot-Marie-Tooth disease (CMT) in Iceland. METHODS: We identified all individuals with symptomatic CMT, based on information from all practicing neurologists, both neurophysiology laboratories and the only neurology department in the country. The diagnosis was based on clinical features and neurophysiological testing. DNA testing was regarded as confirmatory. RESULTS: We identified 37 individuals in 18 families, which were not linked by identifying 5 generations of ancestors. The point prevalence (January 1, 2007) for all CMT subtypes in Iceland was 12.0/10(5), 10.1/10(5) for CMT1 and 2.0/10(5) for CMT2. The clinical features include lower limb weakness (95%), impaired gait (68%), decreased or absent deep tendon reflexes (86%), pes cavus (70%) and hammer toes (46%). Clinical symptoms were similar for the 2 main CMT subtypes. CONCLUSION: We report the prevalence and clinical spectrum of CMT, which is comparable to the results of other prevalence studies, in a well-defined, total population sample.