Myotonic dystrophy symptoms

This forum made possible through the generous support of SDN members, donors, and sponsors. Thank you.

catzzz88

Purrrrrr!?!11??
10+ Year Member
Joined
Mar 28, 2011
Messages
618
Reaction score
208
Does anyone have an explanation or rationale for why myotonic dystrophy displays frontal balding and cataracts?

I am just curious if there is some rational or if this is just something to memorize. It seems live a very interesting pattern!
 
Not sure. But the classic clue is a prominent nose/"beak", and that's due to the facial muscles going through atrophy.
 
Cataract formation is thought to result from decreased lenticular epithelial expression of the "Six5" gene downstream of the myotonic dystrophy protein kinase gene (DMPK) due to trinucleotide expansion (http://www.nature.com/ng/journal/v25/n1/abs/ng0500_105.html)
Definitely not worth knowing but very interesting nonetheless

Not sure why you get frontal balding. Maybe related to the metabolic syndrome and/or hypogonadism, but I couldn't find any literature on it
 
Top