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Results for Query ‹ ARSACS symptoms ›
Autosomal recessive spastic ataxia of Charlevoix-Saguenay – Symptoms
ARSACS is usually diagnosed in early childhood, approximately 12–24 months of age when a child begins to take their first steps. At this time it manifests as a lack of coordination and balance resulting in frequent falls. Some of the signs and symptoms include:
- Stiffness of the legs
- Appendicular and trunk ataxia
- Hollow foot and hand deformities
- Ataxic dysarthria
- Distal muscle wasting
- Horizontal gaze nystagmus
- Spasticity
Autosomal recessive spastic ataxia of Charlevoix-Saguenay – Abstract
Autosomal Recessive Spastic Ataxia of the Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that primarily affects people from the Saguenay–Lac-Saint-Jean and Charlevoix 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 1900 in Quebec, but it is very rare elsewhere.