Trinucleotide repeat expansion diseases Flashcards
1
Q
Try (trinuleotide)
A
HUNTing for MY FRagile cage-FRee eggs(X) Huntington disease Myotonic dystrophy Friedreich's ataxia Fragile X-syndrome
2
Q
Huntington disease
A
Caudate has decreased Ach and G*ABA
3
Q
Myotonic dystrophy
A
Cataracts, Toupee, G*onadal atrophy
4
Q
Fragile X syndrome
A
Chin (protruding), Giant G*onads
5
Q
Friedreich’s ataxia
A
Ataxic GAA*it