Prevalence of Symptomatic CMT Disease in Iceland: A Study of a Well-Defined Pop

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Neuroepidemiology. 2009 Nov 5;34(1):13-17. [Epub ahead of print]

Prevalence of Symptomatic Charcot-Marie-Tooth Disease in Iceland: A Study of a

Well-Defined Population.

Guðmundsson B, Olafsson E, Jakobsson F, Lúðvígsson P.

Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

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.