What is Ataxia of Beauce?
Ataxia of Beauce is a neurological disease. It is a hereditary, genetic and degenerative disease, with an atrophy of the cerebellum.
It was first observed in Quebec, Canada. Precisely in the regions of Beauce and Bas-Saint-Laurent.
Symptoms: Locomotion problems (balance), dysarthria and manual dexterity difficulties.
Life expectancy: Normal.
Age at onset: About thirty.
The disease is recessive. The presence of two abnormal genes is necessary for the disease to manifest itself. There is a 25% chance of having the disease, a 50% chance of being a carrier and a 25% chance of being neither a carrier nor having ataxia of Beauce.
A technical aid may be needed to strengthen the support and provide more safety when moving around.
So far, there has been no treatment to cure ataxia of Beauce.
Occupational therapy, physiotherapy, and speech therapy can be done in order to limit functional losses and to prevent certain complications.
A SYNE 1 (gene) deficiency is the main cause of ataxia de Beauce. (To read more about SYNE 1 deficiency https://www.ncbi.nlm.nih.gov/books/NBK1379/ )