What is CHAMP1?
CHAMP1, which is short for Chromosome Alignment Maintaining Phosphoprotein, is a very rare condition that was only discovered in 2015. The CHAMP1 gene is on chromosome 13 and necessary for mitosis.
What are the symptoms of CHAMP1?
The symptoms of this condition can vary between individuals and in severity. The major symptoms are intellectual disability, developmental delay, and issues with speech. Other symptoms include:
- Symptoms of autism
- Issues with feeding
- Atypical neurological behavior
- Neurological abnormalities
- Repeating things often
- Problems with vision
- Small stature
- Cyclic vomiting syndrome
- Dental issues
- Abnormal facial features
What causes CHAMP1?
The CHAMP1 gene is mutated in those with this condition. It is typically a de novo mutation, meaning parents do not pass it down. It results in a dearth of the CHAMP1 protein, which then leads to the characteristic symptoms.
How is CHAMP1 diagnosed?
Doctors will look for the characteristic symptoms in order to diagnose this condition, as well as perform an MRI. Because there are so few cases and so little is known, there is no specific diagnostic criteria for this condition.
What are the treatments for CHAMP1?
There is no cure or treatment specific to this condition. Doctors suggest speech, physical, and occupational therapy. Other treatments are symptomatic.