Prevalence of Symptomatic Charcot-Marie-Tooth Disease in Iceland: A Study of a Well-Defined Population
| Autor: | Elias Olafsson, Finnbogi Jakobsson, Pétur Lúthvígsson, Bjarni Gudmundsson |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pes cavus Adolescent Epidemiology Population Iceland Prevalence Disease Young Adult Tooth disease Charcot-Marie-Tooth Disease Internal medicine medicine Humans Family Young adult Child education Aged Aged 80 and over education.field_of_study business.industry Middle Aged medicine.disease nervous system diseases Child Preschool Physical therapy Female Neurology (clinical) business Polyneuropathy |
| Zdroj: | Neuroepidemiology. 34:13-17 |
| ISSN: | 1423-0208 0251-5350 |
| DOI: | 10.1159/000255461 |
| Popis: | 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 12.0/105, 10.1/105 for CMT1 and 2.0/105 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|