> For the complete documentation index, see [llms.txt](https://thisispiggy.gitbook.io/my-wiki/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://thisispiggy.gitbook.io/my-wiki/01-step-1/genetics/trinucleotide-disorders.md).

# Trinucleotide Disorders

![](https://i.imgur.com/iY1Nokn.jpg)

![](https://i.imgur.com/Na8bXQ5.jpg)

* polymorphic: many forms include variable number of repeats from person to person

![](https://i.imgur.com/RXLZ4pB.jpg)

* more repeats with each generation

## Fragile X

![](https://i.imgur.com/NQksMuQ.jpg)

![](https://i.imgur.com/wrQ5mYd.jpg)

![](https://i.imgur.com/dYjrOw1.jpg)

![](https://i.imgur.com/PnOHdvN.jpg)

![](https://i.imgur.com/r8p10tn.jpg)

* symptoms similar to down syndrome 

## Frederich's Ataxia

![](https://i.imgur.com/4lyycJj.jpg)

* brain, heart, pancreas depend on mitochondria

![](https://i.imgur.com/5PBpafp.jpg)

## Huntington

![](https://i.imgur.com/L6guhyW.jpg)

* deacetylation

![](https://i.imgur.com/DeSdpbL.jpg)

## Myotonic Dystrophy

![](https://i.imgur.com/YwLIL61.jpg)

* muscle disorder along with DMD, becker

![](https://i.imgur.com/JAE3rfL.jpg)

* loss of myotonic dystrophy protein kinase
* CTG

![](https://i.imgur.com/0di6MWI.jpg)

* later than other muscular dystrophies

![](https://i.imgur.com/4nWWCBl.jpg)

* triad: **C**ataracts, **T**oupee, **G**onadal atrophy

![](https://i.imgur.com/ie5GrhN.jpg)

![](https://i.imgur.com/kuvJg2q.jpg)

![](https://i.imgur.com/rxn3YCh.jpg)

* as opposed to HF

![](https://i.imgur.com/nLlDkD9.jpg)

![](https://i.imgur.com/swjzYjJ.jpg)

![](https://i.imgur.com/HmAzMtF.jpg)