The national diagnosis and care protocol (PNDS) for mitochondrial diseases linked to POLG mutations (DNA polymerase gamma) is now available. It was drafted under the supervision of the CARAMMEL and CALISSON reference centres.
The national diagnosis and care protocol (PNDS) for mitochondrial diseases linked to POLG mutations (polymerase gamma) has just been published online by the French National Authority for Health (HAS).
Its purpose is to facilitate the diagnosis of these conditions and optimise their management in a context where no effective curative treatment yet exists. It also recalls the strictly contraindicated medicines.
Its development involved seventy physicians from eight paediatric or adult specialties across France, paramedical professionals, patient associations and, of course, the CARAMMEL and CALISSON reference centres. Finally, it was the subject of the thesis by Sylvia Rose, a paediatrician at Necker-Enfants Malades Hospital in Paris.
POLG-related mitochondrial diseases: a continuum of clinical phenotypes
The symptoms of POLG-related mitochondrial diseases are varied. They include, in particular, epileptic seizures, developmental disorders, muscle weakness, eye movement disorders, nerve involvement, migraines, stroke-like neurological episodes, as well as digestive or liver disorders.
The different combinations of these symptoms and the age at which they appear define several syndromes that therefore share common manifestations. As a result, there is “a continuum of clinical phenotypes,” says Sylvia Rose. “[And] these [syndromes] are now considered to form a spectrum of overlapping diseases, manifesting from early childhood to adulthood.”