Charlevoix-Saguenay spastic ataxia

Charlevoix-Saguenay spastic ataxia, also known as ARSACS, is a neurodegenerative disorder that mainly affects the brain and nervous system. It is characterized by early-onset cerebellar ataxia, which affects balance and coordination, along with spasticity, a type of increased muscle stiffness. People with this condition also experience a pyramidal syndrome and peripheral neuropathy, which can affect movement and sensation in the limbs. The disorder is part of a group of inherited neurodegenerative diseases and is recognized for its specific pattern of symptoms.

Common symptoms include early-onset problems with balance and coordination (cerebellar ataxia), muscle stiffness or spasticity, and signs of pyramidal syndrome and peripheral neuropathy. These symptoms affect movement and sensation in people with this condition.

Charlevoix-Saguenay spastic ataxia is caused by changes in the SACS gene and follows an autosomal recessive inheritance pattern. This means that a person needs to inherit changes in both copies of the gene to develop the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.