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dc.contributor.authorGudmundsson, Bjarni
dc.contributor.authorOlafsson, Elias
dc.contributor.authorJakobsson, Finnbogi
dc.contributor.authorLudvigsson, Petur
dc.date.accessioned2010-10-28T16:33:55Z
dc.date.available2010-10-28T16:33:55Z
dc.date.issued2010-01
dc.date.submitted2010-10-28
dc.identifier.citationNeuroepidemiology. 2010, 34(1):13-7en
dc.identifier.issn1423-0208
dc.identifier.pmid19893324
dc.identifier.doi10.1159/000255461
dc.identifier.urihttp://hdl.handle.net/2336/113965
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractBACKGROUND/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.
dc.language.isoenen
dc.publisherS. Kargeren
dc.relation.urlhttp://dx.doi.org/10.1159/000255461en
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshAgeden
dc.subject.meshAged, 80 and overen
dc.subject.meshCharcot-Marie-Tooth Diseaseen
dc.subject.meshChilden
dc.subject.meshChild, Preschoolen
dc.subject.meshFamilyen
dc.subject.meshFemaleen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshPrevalenceen
dc.subject.meshYoung Adulten
dc.titlePrevalence of symptomatic Charcot-Marie-Tooth disease in Iceland: a study of a well-defined populationen
dc.typeArticleen
dc.contributor.departmentFaculty of Medicine, University of Iceland, Reykjavik, Iceland.en
dc.identifier.journalNeuroepidemiologyen
html.description.abstractBACKGROUND/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.


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