Prevalence of symptomatic Charcot-Marie-Tooth disease in Iceland: a study of a well-defined population.
Neuroepidemiology
; 34(1): 13-7, 2010.
Article
em En
| MEDLINE
| ID: mdl-19893324
ABSTRACT
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
Tipo de estudo:
Diagnostic_studies
/
Prevalence_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
/
Aged
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Aged80
/
Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article