Autosomal Dominant Disorders

Question 1

Abnormal expression of myotonin protein kinase in myotonic muscular dystrophy results in…

Answer 1

1. Myotonia
2. Muscle wasting
3. Cataracts
4. Testicular atrophy
5. Frontal balding
6. Arrhythmia

Question 2

What handy mnemonic can be used to remember the clinical findings in myotonic muscular dystrophy?

Answer 2

My Tonia, My Testicles (testicular atrophy), My Toupee (frontal balding), My Ticker (arrhythmia)

Question 3

Myotonic muscular dystrophy type 1 is due to…

Answer 3

CTG trinucleotide repeat expansion in the DMPK gene.