ARSACS

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, or ARSACS, is a rare, inherited neurological disorder. It is characterized by a progressive combination of spasticity, ataxia, and peripheral neuropathy. The onset of symptoms typically occurs in early childhood or adolescence.

The primary symptoms of ARSACS include difficulty with coordination and balance (ataxia), leading to an unsteady gait. Spasticity, a form of muscle stiffness that can impair movement, also develops. Peripheral neuropathy affects the nerves outside of the brain and spinal cord, which can result in weakness, numbness, or tingling sensations, particularly in the legs and feet. Other potential symptoms may include vision problems, such as nystagmus (involuntary eye movements) and optic atrophy, as well as cognitive impairment in some individuals.

ARSACS is caused by mutations in the SACS gene, which provides instructions for making a protein called sacsin. Sacsin is thought to play a role in the function of neurons, particularly in maintaining the structure and stability of the cytoskeleton. The inheritance pattern is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

There is no cure for ARSACS, and treatment focuses on managing symptoms to improve quality of life. This may involve physical therapy to address spasticity and ataxia, occupational therapy to assist with daily living activities, and speech therapy if communication is affected. Regular monitoring by healthcare professionals is essential to track disease progression and adjust management strategies.