Combined oxidative phosphorylation deficiency type 13 (commonly known as PNPT1) is a rare mitochondrial disease caused by a defect in mitochondrial protein synthesis due to the mutation of the PNPT1 gene.

It is characterised by normal early development, followed by the sudden onset, during childhood, of feeding difficulties, dysphagia, trunk hypotonia (followed by global hypotonia), motor regression, movement abnormalities (severe limb dystonia, choreoathetosis, facial dyskinesia), and decreased tendon reflexes. The course of the disease is severe but not progressive.

Do you believe in the power of solidarity and making a difference? You’re welcome. Together, we can turn challenges into hope for many people affected by rare genetic diseases.

Become a member with a small donation to support our projects and scientific research. Offer your time and skills as a volunteer in various activities, from communication to fundraising and event organisation. If you have personal experience with a rare genetic disease, please share it with us. Collaborate with GENE.RARE and help raise awareness of our commitment to a future where scientific discoveries lead to innovative treatments.

.