Naxos Disease Flashcards
1
Q
What are the symptoms for Naxos Disease?
A
Early Naxos Disease
- Wooly hair at birth
- Palmoplantar keratoses (lesions on the hands and feet)–> develops within a year of life
Late Puberty
-arrhythmogenic right ventricular dysplasia/cardiomyopathy
2
Q
What genes are involved in Naxos disease?
A
Plakoglobin gene (Pk2157del2TG)
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Carvajal Syndrome
Desmoplakin gene (Dsp7901del1g and DspG2375R)
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3
Q
What is the inheritance pattern for Naxos disease?
A
Autosomal recessive
4
Q
What is the phenotype of the heterozygous in Naxos Disease?
A
They act as carriers and are unaffected
