Spastic Ataxia Charlevoix-Saguenay TypeSymptoms, Doctors, Treatments, Advances & More
Learn About Spastic Ataxia Charlevoix-Saguenay Type
View Main Condition: Movement Disorders
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).
Mutations in the SACS gene cause ARSACS. The SACS gene provides instructions for producing a protein called sacsin. Sacsin is primarily found in cells in the brain, skin, and muscles used for movement (skeletal muscles), but the specific function of the protein is unknown. Research suggests that sacsin plays a role in organizing proteins into bundles called intermediate filaments. Intermediate filaments provide support and strength to cells. In nerve cells (neurons), specialized intermediate filaments called neurofilaments comprise the structural framework that establishes the size and shape of nerve cell extensions called axons, which are essential for transmission of nerve impulses to other neurons and to muscle cells.
The incidence of ARSACS in the Charlevoix-Saguenay region is estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, the incidence of ARSACS is unknown. About 200 individuals with ARSACS have been described in the scientific literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Cynthia Gagnon practices practicing medicine in Sherbrooke, Canada. Ms. Gagnon is rated as an Elite expert by MediFind in the treatment of Spastic Ataxia Charlevoix-Saguenay Type. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, and Spastic Ataxia Charlevoix-Saguenay Type.
Isabelle Lessard practices practicing medicine in Jonquiere, Canada. Ms. Lessard is rated as an Elite expert by MediFind in the treatment of Spastic Ataxia Charlevoix-Saguenay Type. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Spastic Ataxia Charlevoix-Saguenay Type, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 4, and Spasticity.
Ballad Health Medical Associates Neurology
"Shaena Blevins, MD, is a board-certified neurologist who practiced neurology in Gainesville, Georgia, for more than a decade. She loves her patients and, ""the long-term relationships and continuity of care that being a neurologist allows,"" she says. Dr. Blevins feels it is key to listen to her patients and their caregivers. She also believes, ""it is of utmost importance for my patients to understand their disease and treatment options."" Dr. Blevins and her husband are happy to be returning 'home' to the Appalachian Highlands to raise their children around family. Procedures". Dr. Blevins is rated as an Experienced provider by MediFind in the treatment of Spastic Ataxia Charlevoix-Saguenay Type. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Essential Tremor, Cerebellar Degeneration, Transverse Myelitis, and Memory Loss. Dr. Blevins is board certified in American Board Of Psychiatry & Neurology.
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: February 01, 2020
Published By: National Institutes of Health