- Marfan Syndrome
- Li-Fraumeni Syndrome (LFS)
- Job (Hyper IgE) Syndrome
- Hereditary Spherocytosis
- von Hippel-Lindau (VHL)
- MEN 1
- MEN 2
- Von Recklinghausen Disease (NF I)
- Neurofibromatosis Type II (NF II)
- Myotonic Dystrophy
Myotonic Dystrophy is an autosomal dominant muscular dystrophy characterized by progressive muscle wasting and weakness.
The syndrome is caused by CTG trinucleotide repeats, and the classic clinical feature is myotonia, classically with involuntary contractions described as "unable to let go of a doorknob or a jar lid". Clinical features beside myotonia include muscle weakness, arrhythmias, frontal balding, and testicular atrophy.
Find Myotonic Dystrophy and more Autosomal Dominant Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.