ⓘ Autosomal recessive spastic ataxia of Charlevoix-Saguenay

                                     

ⓘ Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a very rare neurodegenerative genetic disorder that primarily affects people from the Charlevoix and Saguenay–Lac-Saint-Jean regions of Quebec or descendants of native settlers in this region. This disorder has also been demonstrated in people from various other countries including India, Turkey, Japan, the Netherlands, Italy, Belgium, France and Spain. The prevalence has been estimated at about 1 in 1.900 in Quebec, but it is very rare elsewhere.

                                     
  • in autosomal recessive spastic ataxia of Charlevoix - Saguenay ARSACS a neurodegenerative disorder characterized by early - onset cerebellar ataxia with
  • torticollis Spastic a Spastic d Spastic angina with healthy coronary artery Spastic ataxia Charlevoix Saguenay type Spastic diplegia infantile type Spastic dysphonia
  • 117550 NSD1 Spastic ataxia Charlevoix - Saguenay type 270550 SACS Spastic paralysis, infantile onset ascending 607225 ALS2 Spastic paraplegia 10