defining characteristics
Maternal anticipation, asymmetric distal weaknes w/ myotonia, pt can make a fist but can’t open it back up easily; frontal balding, cataracts, cardiac conduction probs, endocrine dysfunction (hypogonadism, insulinR), GI hypomotility
disease development
Autosomal dominant inheritance associated with trinucleotide CTG repeats in myotonin-protein kinase gene on C19
potential causes
Maternal anticipation (increases number of CTG rpts)
epidemiology
5-20/100,000 live births
risk factors
labimaging
Clinical exam
conventional treatment
complications
Multisystem disorder; possible complete heart block
