Learn More About Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
What is ARSACS?
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary and progressive neurological disorder. The mutation that causes this rare disease occurs on the SACS gene. The SACS gene is extremely large, so there are many different mutations that can occur in the gene. This means that ARSACS patients who have undergone genetic testing will have a variety of different results regarding where their particular gene mutations occurs.
The disease is named after the Charlevoix-Saguenay regions in Canada because it was first discovered and described by doctors from that area. Although initially more prevalent in these regions of Canada, cases of ARSACS are found worldwide.
What are the symptoms?
The symptoms generally appear between the ages of 2 and 5 years old, but there are also cases of adult onset. Most common symptoms include, but are not limited to, muscle tightness, balance issues, difficulty walking, reduced manual dexterity, lack of coordination, and speech difficulties. Each ARSACS patient is unique, and disease progression varies greatly for patients.
What are the options for treatment today?
Currently, there is no treatment available for ARSACS, but there are many research projects taking place worldwide to test drugs or supplements that may slow disease progression. Gene therapy research is also underway in Canada, Italy, and the United States. The ARSACS Foundation in Canada has an active listing of all current research projects on their website (arsacs.com). AFA is extremely interested in supporting advancements in the area of gene therapy and plans to fundraise to expedite these efforts. Finally, researchers have shown that exercise and movement, such as physical therapy or occupational therapy, is extremely helpful for ARSACS patients.