People with COQ9 gene problems have a variety of symptoms affecting their brain, muscles, and heart.
Brain:
• Thinking problems, ranging from mild difficulties to severe intellectual disability
• Delays in reaching developmental milestones
• Seizures
Muscles:
• Weakness, starting in infancy and getting worse over time
• Difficulty moving and reaching milestones
Heart:
• Thickening of the heart muscle, which can lead to heart problems
• Severity varies from no symptoms to heart failure
Other symptoms:
• Digestive problems
• Hearing loss
• Eye problems
Each person's experience is different, so doctors from different specialties need to work together to diagnose and treat this condition.
Scientists are still learning about this condition, and they hope to improve diagnosis, predict outcomes, and develop better treatments.
COQ9