Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.
Eyes front and ears open. Class is now in session.
The rare disease that we will be learning about today is:
Ogden Syndrome
Also known as N-terminal acetyltransferase deficiency (NATD), but lets stick with Ogden syndrome for now.
What is Ogden Syndrome?
- A rare neurodevelopmental disorder linked to the X chromosome
- Usually fatal
- Only boys are affected
- Only around 20 documented cases
- Only diagnosed with whole exome sequencing
- Named after Ogden, Utah, where the first family affected by the disease was found
How Do You Get It?
- Ogden syndrome is linked to a mutation affecting the NAA10 gene.
- The mutation must be inherited from both parents.
What Are The Symptoms?
- Developmental delays
- Distinct facial features causing an aged appearance
- Growth failure
- Cardiac arrhythmia (irregular heartbeat)
- Cryptorchidism (absence of at least one testicle from the scrotum)
- Hypotonia (low muscle tone)
How Is It Treated?
- Goal: Maintaining quality of life and reducing unnecessary suffering.
- Treatment is symptomatic and supportive
- There are no known treatments that can slow down or otherwise modify the progression of Ogden syndrome.
- Ultimately lethal in all known cases before age three, with death often occurring earlier
Where Can I Learn More???
- Check out our cornerstone on this disease here.
