What is ARSACS?

Autosomal Recessive Spatic Ataxia of Charlevoix-Saguenay is a debilitating and hereditary progressive childhood neurological disorder.

Symptoms generally appear between the ages of 2 and 5 years old. Already at that age, the child’s motor skills are affected. The disorder progresses throughout the adolescence and adulthood (stiffness in the legs, increasing difficulty in walking to the use of a wheelchair). Ataxia affects the spinal cord and the peripheral nerves.

The name of the disorder refers to the Charlevoix-Saguenay regions located in the Province of Quebec (Canada) only because it was first discovered and described by doctors from the Province of Québec. 

Even though initially more frequent in those regions, ARSACS cases have been identified around the world.  ARSACS is the second most common recessive ataxia after Friedrich’s ataxias.

 

Frequently asked questions

 

Where is ARSACS?

 

Persons affected with ARSACS are found all over the word. If you have been diagnosed with ARSACS, you are not alone. The name of the disorder refers to the Charlevoix-Saguenay regions in Québec (Canada) only because it was discovered and first described by doctors from the Province of Québec. According to the Foundation’s  ARSACS International Patients Registry and according to the historical cohort from the scientific literature, ARSACS is found in all continents.

What are the symptoms of ARSACS?

The symptoms generally appear between the ages of 2 and 5 years old. Already at that age, the child’s motor skills are affected. The disorder progresses throughout adolescence and adulthood. Most frequent  symptoms are : stiffness in the legs, balance,  increasing difficulty in walking, reduced manual dexterity, lack of coordination of the arms, speech difficulties, finally, the use of walker or a wheelchair. Each person is unique and may not be affected the same way or at the same level as another person. Therefore, it is recommended to discuss your own situation with your medical professional. 

What are the options to treat ARSACS?

Currently, there is no treatment available for ARSACS.   However, the Ataxia Charlevoix Saguenay Foundation’s mission is to help discover and develop a treatment for ARSACS. Each year, the Foundation finances several scientific research projects aimed to develop a treatment that could alleviate the symptoms of the condition and ultimately to find a cure. The research team is composed of several researchers around the world. They are well respected in their field and have an international reputation for their expertise. It is research that heals!

Where can I get some support?

In general, health and social services professionals in your area can provide care and follow-up of people with ARSACS. These teams are generally made up of neurologists, nurses, physiotherapists, occupational therapists, and orthopedists.

Different national organisations on other types of ataxia located in several countries are a good source of information and support.

Social media on ARSACS and other types of ataxia are available to get support.

 

 

 

What can I do to help my child or family member?

It is proven that a regular physical activity program and a well balanced diet help the ARSACS patient. Furthermore, you may consider approaching the school for some school adaptations and accommodations

 

Registration of your child or family member to the ARSACS International Patient Registry

Registration to the ARSACS International Patient Registry contributes indirectly to the development of treatments. In fact, the registry facilitates contact between researchers and patients who wish to be contacted for participating in clinical trials. In addition to being an essential tool to researchers, the patient registry provides an idea of the market size and the potential for trial recruitment which are crucial elements when discussing drug development possibilities with pharmaceutical companies.

To register, visit the Foundation’s website https://www.arsacs.com/patient-registry/

Thank you for registering.

What can I do to help the ARSACS community and the ARSACS Foundation?

You can help the Foundation by creating awareness for ARSACS and be an ARSACS advocate. You can also organize fundraising activities in your community to support research and clinical trials.

 

Another way to help ….  Be the eyes on what is going on

You do not have to be a scientist to help advance science for ARSACS. We believe that research on other neurological diseases may help research on ARSACS and eventually lead to therapies. This is the reason why we asked you to be the eyes on what is going on for other types of ataxias and other neurological diseases. In other words, if you see or read scientific material that is worth sharing and validating (outbreaks, drugs, clinical trials, fundamental research developments), please do not hesitate to transmit this information to the ARSACS Foundation. The Foundation has dedicated volunteers and can seek professional advice to confirm or infirm the relevance of the information with respect to ARSACS.

THERE IS HOPE

The Foundation’s mission is to contribute to the discovery and to the development of a treatment for the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).

Progress has been made over the years in identifying the source of the disorder.  Your support is crucial to continue funding high potential projects as well as clinical trials. 

Research that heals!

People with ARSACS

You or a member of your family has been diagnosed with ARSACS, you are not alone. ARSACS patients are all around the world.

Make your voice heard:

  • register in the ARSACS International Patient Registry;
  • participate in ARSACS research surveys, preclinical or clinical trials;
  • stay connected with the ARSACS community via the social media.

There is hope. ARSACS research is being done to find a treatment.

Researchers

The Foundation is financing several ARSACS research projects in several countries.

Research grants  are available to researchers. The research grant could be as high as $100,000 for a 12 month period.

Research tools are available to researchers.

Become a volunteer

Become a volunteer. Organize  fundraising activities in your community and create awareness of ARSACS. The Foundation has no employees and is supported entirely by private donations and volunteers.

Another way to help ….  Be the eyes on what is going on. You do not have to be a scientist. If you read scientific material that is worth sharing and validating (outbreaks, drugs, clinical trials, fundamental research developments), please transmit the information to the ARSACS Foundation.