Do you have an undiagnosed patient despite exome sequencing? 🤔

It could be a repeat expansion disorder.

Here are 5 scenarios that should make you think of a repeat expansion disorder in adults. 🧵

#GeneChat #MedTwitter 1/5
A 21 y man with slurred speech who is experiencing difficulty with coordination and balance over the last several years. He fatigues easily.

Diagnosis: Friedreich's ataxia
Genetics: GAA repeat expansion in the 1st intron of FXN
Inheritance: Autosomal recessive

#Neurology