Epidemiology
Estimated prevalence is 1 in 30,000 to 1 in 50,000 people.[7] The disease does not favour a particular sex. All ethnic groups are affected, but some populations report a significantly higher prevalence due to consanguinity or higher mutation frequencies (e.g., Israel, Gran Canaria, Sardinia).[7][8][9] Clinical disease usually appears from about the age of 10-40 years but can manifest at any age.[10] The diagnosis should not be excluded based on age.[5]
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